- Last 7 days
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Case: patient #51, male, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: ,Hyperammonemia (HP:0001987)
Case HPO FreeText: N/A
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1
Variant: NM_000531.6:c.894G>A(p.Trp298*)
ClinVarID: N/A
CAID: CA412725724
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #51, male, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: neonatal(HP:0003623), intellectual disability (HP:0001249), seizure (HP:0001250),Hyperammonemia (HP:0001987)
Case HPO FreeText: Hypertonus, Autism, Acute liver failure. very high blood ammonia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1
Variant: NM_000531.6:c.867+1G>C
ClinVarID: N/A
CAID: CA412723994
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #50, male, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Seizure HP:0001250, hyperammonemia HP: 0001987
Case HPO FreeText: Hepatomegaly, Abnormal brain MRI and brain waves, Acute liver failure, Corneal opacity
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The mRNA ref seq were, wherein the “A” nucleotide of the start codon ATG constituted as +1 numbering of the cDNA sequence. Met encoded by the start codon ATG also represented +1 for the amino acid numbering as set forth by the preprotein seq. PolyPhen-2, SIFT, and I-Mutant 3 tools were used for predicting the potential impact of an amino acid alteration in missense mutations on the function of each enzyme.
Supplemental Data: Table 1
Variant: NM_000531.6:c.834_840del(p.Gln279Serfs*8)
ClinVarID: N/A
CAID: CA2695233329
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient ID, Female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0001951, HP: 0001987
Case HPO FreeText: episodic hyperammonemia, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.1052delA(p.Lys351Serfs*44)
ClinVarID: 915468
CAID: CA1139667400
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient ID, Female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0003623, HP: 0001987
Case HPO FreeText: Neonatal onset, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.766G>T(p.Gly256*)
ClinVarID: 870326
CAID: CA412722685
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient ID, Female
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0001951, HP: 0001987
Case HPO FreeText: episodic hyperammonemia, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.568dupA(p.Thr190Asnfs*35)
ClinVarID: 870328
CAID: CA916083887
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient ID, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0003623, HP: 0001987
Case HPO FreeText: Neonatal onset, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Genomic DNAs were extracted from leukocytes, The ten exons and intron-exon boundaries of the OTC gene were PCR amplified and analyzed by Sanger sequencing on an ABI3100 sequencer. Intragenic deletions/duplications were searched for by Multiple Ligation Probe Dependent Amplification assay. Potential impact of non truncating variants on mRNA and protein was predicted using Splice Site Prediction. OTC variants were split into two groups, “severe” and “mild,” based on their impact on the clinical phenotype and on the OTC protein.
Supplemental Data: Table 3, All nuclear family members were tested but no information about their genotype. the condition to be part of this study was the presence of at least one heterozygous female in the pedigree of the patient.
Variant: NM_000531.6:c.217-2A>G(IVS2)
ClinVarID: 915470
CAID: CA412716751
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #27, male, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0003593, HP:0003218, HP: 0001987
Case HPO FreeText: Infantile onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.929_931del(p.Glu310Valfs*45)
ClinVarID: N/A
CAID: CA916083888
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #37, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: Childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.1043delA(p.Gln348Argfs*47)
ClinVarID: N/A
CAID: CA2695233335
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #35, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, This is a large deletion. The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.853C>T(p.Gln285*)
ClinVarID: N/A
CAID: CA412723777
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #34, female, Korean
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: HP:0011463, HP:0003218, HP: 0001987
Case HPO FreeText: childhood onset, oroticaciduria, hyperammonemia
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, This is a manifesting heterozygote. Serum Gln+Glu was considered elevated. The minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.717+1G>T(IVS7+1G>T)
ClinVarID: 97298
CAID: CA224753
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: Patient #30, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0003218
CaseHPOFreeText: childhood onset, oroticaciduria,
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, Serum Gln+Glu was considered elevated, the minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.491C>G(p.Ser164*)
ClinVarID: 97220
CAID: CA224642
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #6, male, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218
CaseHPOFreeText: Neonatal onset, hyperammonemia, oroticaciduria,
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: "Potential impact of mutations on OTC function and/or folding assessed by multiple alignments of orthologous protein sequences and human OTC and structural data from Protein Data Bank (1C9Y and available orthologs). In M patients, the approximate extent of the deletions assessed by inspection of presence/absence of PCR products. In F patients, the deletions determined by the SALSA multiplex ligation probe amplification (MLPA) KIT P079 OTC (MRC-Holland, Amsterdam, the Netherlands) and the Affymetrix Human SNP 6.0 array (Santa Clara, CA). Sequence spanning 38,211,736 – 38,300,703 bp region on chromosome X (GRCh37) and including OTC was scanned for motifs CCTCCCT, CCTCCTT, CCTCCCTT, CCCCACCCC, CCNCCNTNNCCNC, GGNGGNAGGG and their complements known as being associated with recombination hotspots. Repeats capable of non-B DNA structure formation implicated in double strand breaks (DSBs) were sought by complexity analysis . X-inactivation ratio determined by analysis of methylation status of the human androgen-receptor locus (HUMARA)
Supplemental Data: Table 1&2, the minimum plasma ammonia, orotic acid and Gln+Glu concentrations depends on certain age range: Plasma ammonia: neonates <90μmol/l, other <60μmol/l. Urinary orotic acid: 0–1year <6.6mmol/mol creatinine, 1 – 10 years <3.5 mmol/mol creatinine, over 10 years <2.4 mmol/mol creatinine. Serum glutamate + glutamine: 0 – 1 month 200–1200μmol/l, 1 month–1year 200–1100μmol/l, 1year–18years 200–900μmol/l, over 18years 200–800μmol/l.
Variant: NM_000531.6:c.461_471del(p.Glu154Alafs*18)
ClinVarID: N/A
CAID:CA2695233305
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
Tags
- CAID: CA412723777
- CAID: CA2695233305
- c.853C>T
- Mutation: Splicing LOF
- CAID: CA224753
- PMID: 23278509
- c.717+1G>T
- CAID: CA916083888
- CAID: CA224642
- c.491C>G
- c.1043delA
- Mutation: Frameshift
- c.929_931del
- ClinVar: 97220
- CAID:CA2695233335
- ClinVar: 97298
- c.461_471del
- Gene: OTC
- Mutation: Nonsense
Annotators
URL
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Case: Patient #15, male, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: Neonatal onset, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, mother is a carrier, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6:c.796_805del(p.Ile265_Gly268delinsAspfs*19)
ClinVarID: N/A
CAID:CA2695233326
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #45, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant in mother (father not tested) and brother
CasePresentingHPOs: HP:0003593, HP:0001987, HP:0003218
CaseHPOFreeText: infantile onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, mother is a carrier, the mutation was also found in patient 13(her brother), no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6c.664_667delinsAC(p.Gly222Thrfs*2)
ClinVarID: N/A
CAID:CA2695233319
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #42, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: N/A
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218
CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6:c.958C>T(p.Arg320*)
ClinVarID: 97371
CAID:CA285809
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #44, female, Korean
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant in mother (father not tested)
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003217
CaseHPOFreeText: Childhood onset, hyperammonemia, oroticaciduria, hyperglutaminemia
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: Genomic DNA was extracted from peripheral blood leukocytes. A total of 10 coding exons and exon–intron boundaries of the OTC gene were amplified by PCR with customized primers. PCR products were directly sequenced with the same primers . Sequencing results were compared with the established human OTC sequences(NM_000531.5). Multiplex ligation-dependent probe amplification analysis was performed for patients in whom no OTC mutations were identified by direct sequencing using the OTC MLPA kit.
Supplemental Data: Table 1, mother is a carrier, no range was given for blood ammonia concentration, range given in the tables for glutamine and urine orotate is slightly different than the one in the results paragraphs.
Variant: NM_000531.6:c.799_800insA (p.Ser267Lysfs*26)
ClinVarID: N/A
CAID:CA2695233327
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: Patient #30, male, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: no family history of the disease
CasePresentingHPOs: HP:0003593, HP:0001987, HP:0003218
CaseHPOFreeText: infantile onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)
Variant: NM_000531.6:c.929_931del(p.Glu310Valfs*45)
ClinVarID: 858012
CAID:CA916083888
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #61, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo:
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: childhood onset, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)
Variant: NM_000531.6:c.868-1G>C
ClinVarID: N/A
CAID:CA412725475
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #52, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: family history of the disease, variant in probands mother and father
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: childhood onset,, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, inherited mutation, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), low protein diet treatment, and continuous veno venous hemodialfiltration
Variant: NM_000531.6:c.703C>T
ClinVarID: N/A
CAID: CA412721652
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #20, male, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo:
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218
CaseHPOFreeText: childhood onset, hyperammonemia, oroticaciduria
CaseNOTHPOs:
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment (L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), deceased
Variant: NM_000531.6:c.794G>A(p.Trp265*)
ClinVarID: N/A
CAID:CA412722994
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #60, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: family history of the disease
CasePresentingHPOs: HP:0011463, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: childhood onset,, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs:
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, inherited mutation, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), low protein diet treatment, and continuous veno venous hemodialfiltration
Variant: NM_000531.6:c.718-1G>A
ClinVarID: N/A
CAID: CA412722112
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #58, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant pin proband's mother and father CasePresentingHPOs: HP:0003593, HP:0002038, HP:0001987, HP:0003218, HP:0003572
CaseHPOFreeText: infantile onset , protein avoidance, hyperammonemia, oroticaciduria, low plasma citrulline
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purifed and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplifcation analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, low protein diet treatment and drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate), neurological damage
Variant: NM_000531.6:c.540+265G>A
ClinVarID: 449382
CAID: CA658658977
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #3, male, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: Family history of the disease, variant in probands mother and father
CasePresentingHPOs: HP:0003623, HP:0001987, HP:0003218
CaseHPOFreeText: neonatal, hyperammonemia , oroticaciduria
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, no therapy received, mutation inherited, family history, deceased
Variant: NM_000531.6:c.579G>A
ClinVarID: N/A
CAID: CA412725369
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
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Case: Patient #59, female, Chinese
DiseaseAssertion: UCD/OTCD
FamilyInfo: variant in proband's mother and father
CasePresentingHPOs: HP:0003621, HP:0001987, HP:0003218, HP:0003217
CaseHPOFreeText:juvenile onset, hyperammonemia , oroticaciduria, hyperglutaminemia
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: No neurological damage
CasePreviousTesting: gDNA extracted from peripheral blood leukocytes. PCR all coding exons and exon–intron boundaries of the OTC gene using 9 pairs of synthetic oligonucleotide primers, and the primer sequences and annealing temperature. PCR products were then purified and bidirectionally sequenced. The library was sequenced using Illumina HiSeq4000 and generated 150 bp paired-end reads. Data analysis was performed as previously described [Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, et al. Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann–Steiner syndrome. Am J Med Genet A. 2017;173:510–4.]. Multiplex ligation-dependent probe amplification analysis was performed for samples in which Sanger sequencing or WES failed to detect any disease-causing mutation.
SupplementalData: Table 3, drug treatment(L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate)
Variant: NM_000531.6:c.664-1G>A
ClinVarID: 97288
CAID: CA224737
gnomAD:
GeneName: OTC (ornithine transcarbamylase)
Tags
- c.718-1G>A
- CAID: CA412722994
- Mutation: Splicing LOF
- PMID: 33272297
- CAID: CA916083888
- c.703C>T
- ClinVar: 858012
- CAID: CA658658977
- ClinVar:97288
- Mutation: Frameshift
- CAID: CA224737
- CAID:CA412722112
- c.929_931del
- cDNA: c.540+265G>A
- c.794G>A
- CAID: CA412725369
- CAID: CA412725475
- c.868-1G>C
- CAID:CA412721652
- c.664-1G>A
- Gene: OTC
- c.579G>A
- Mutation: Nonsense
Annotators
URL
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- May 2024
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organisms can actually go and use the chance and they're doing that all the time see the way our immune systems work shows that what happens when a new virus or new bacterium or new 00:02:56 anything else arrives
for - key insight - living systems use chance to adapt
key insight - living systems use chance to adapt - immune system defends against novel viruses - cancers grow - bacteria become resistant to antibiotics
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- Aug 2022
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www.theguardian.com www.theguardian.com
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Ball, P. (2022, February 26). Will we get a single, variant-proof vaccine for Covid? The Observer. https://www.theguardian.com/society/2022/feb/26/will-we-get-a-single-variant-proof-vaccine-for-covid
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www.biorxiv.org www.biorxiv.org
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Iketani, S., Liu, L., Guo, Y., Liu, L., Huang, Y., Wang, M., Luo, Y., Yu, J., Yin, M. T., Sobieszczyk, M. E., Huang, Y., Wang, H. H., Sheng, Z., & Ho, D. D. (2022). Antibody Evasion Properties of SARS-CoV-2 Omicron Sublineages (p. 2022.02.07.479306). bioRxiv. https://doi.org/10.1101/2022.02.07.479306
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Varmus, H. (2021, August 31). Covid has revealed the need for genomic sequencing around the world. Financial Times. https://www.ft.com/content/342fd3c3-5a22-49a0-9cef-135f2ccd8700
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plus.tagesspiegel.de plus.tagesspiegel.de
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Karberg, S., & Friebe, R. (2022, January 18). Virologe Drosten im Interview: „Wie lange geht diese Quälerei noch weiter?“. https://plus.tagesspiegel.de/wissen/virologe-drosten-im-interview-wie-lange-geht-diese-qualerei-noch-weiter-361636.html
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www.nature.com www.nature.com
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Meng, B., Abdullahi, A., Ferreira, I. A. T. M., Goonawardane, N., Saito, A., Kimura, I., Yamasoba, D., Gerber, P. P., Fatihi, S., Rathore, S., Zepeda, S. K., Papa, G., Kemp, S. A., Ikeda, T., Toyoda, M., Tan, T. S., Kuramochi, J., Mitsunaga, S., Ueno, T., … Gupta, R. K. (2022). Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity. Nature, 1–1. https://doi.org/10.1038/s41586-022-04474-x
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twitter.com twitter.com
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ReconfigBehSci. (2021, December 12). RT @ryan_landay: > A new diverse genome has appeared within the B.1.1.529 lineage that has all of the shared mutations of B.1.1.529, some o… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1470066521615605766
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twitter.com twitter.com
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ReconfigBehSci on Twitter: “RT @chrischirp: As well as Tom’s new one (B.1.1.529), C.1.2 seems to be spreading in S Africa—C.1.2 was the one with lots of worrying mut…” / Twitter. (n.d.). Retrieved December 23, 2021, from https://twitter.com/SciBeh/status/1463597407082532864
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www.washingtonpost.com www.washingtonpost.com
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Perspective | Even the best-case scenario with omicron will still be bad. (n.d.). Washington Post. Retrieved December 23, 2021, from https://www.washingtonpost.com/outlook/2021/12/21/omicron-mild-cases-numbers/
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- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1
GeneName: DICER1 PMCID: PMC7859642 HGNCID: Unavailable Inheritance Pattern: Autosomal dominant. Disease Entity: Familial pleuropulmonary blastoma (PPB), cervix embryonal rhabdomyosarcoma, multinodular goiter, nasal chondromesenchymal hemartoma, Ciliary body medulloepithelioma, Sertoli-Leydig Cell Tumor (SLCT), differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, cystic nephroma, Wilm's tumor and sarcomas of different sites including, amongst others, the uterine cervix, kidney and brain. Mutation: Germline Zygosity: Heterozygose Variant: No ClinVarID present. Family Information: No family outline Case: No specified information of patients included. CasePresentingHPO's: n/a CasePrevious Testing: n/a gnomAD: n/a Mutation Type: nonsense, frameshift, or splice affected.
Tags
- Inheritance Pattern: Autosomal dominant
- Gene: DICER1
- Mutation type: Nonsense
- Ciliary body medulloepitheliomma
- PMCID: PMC7859642
- Differentiated thyroid carcinoma
- Cervix embryonal rhabdomyosarcoma
- Sertoli-Letdig Cell Tumor(SLCT)
- Wilm's tumor
- Mutation: Germline
- Mutation type: Frameshift
- Zygosity: Heterozygous
- Familial pleuropulmonary blastoma (PPB)
- Multinodular goiter
- Nasal chondromesenchymal hemartoma
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder.
gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a
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watermark.silverchair.com watermark.silverchair.com
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DICER1 syndrome is an autosomal-dominant,pleiotropic, tumor-predisposition disorder arisingfrom pathogenic germline variants in DICER1, whichencodes an endoribonuclease integral to processingmicroRNAs
DICER1 is the gene name. PubMed ID, HGCNCID, and Variant: I can't find Inheritance Pattern: autosomal-dominant The disease entity: DICER1 syndrome The type of mutation: germline. Zygosity: not known. Family Information: a family was used, DICER1 carriers, and non DICER1 variant used, some of the family members had tumors from DICER1 Case Information: mean age is 34, the range of age is 18.6 to 43 years, male, and female used, ethnicity can't find Case Presenting HPO: cancer testing, chemotherapy, radiotherapy gnomeAD: 9.2,8.3.2 Mutation type: Pleiotropic, loss of function, missense
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Variant: Clinvar ID not identified
- case wt: m&f 0.5-19
- pathogenicity: only 2 of 17 patients died from disease
- Mutation: c.3580delA
- Inheritance Pattern: Non- inheritance(DNA methylation)
- Zygosity: Some Cases displayed homozygosity
- case mut: f 28-67
- Mutation: c.5428G>T
- GeneName: DICER1
- Mutation: c.5438 A> C
- PMID (PubMed ID): 33846547
- Mutation: c.5125G > A
- Mutation: c5113G>A
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- Mutation: c.4420A>G
- Mutation: c.4267G>T
- Family Information: not identified
- Mutation: 5428 G>C
Annotators
URL
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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GeneName: DICER1 syndrome (pleuropulmonary blastoma familial tumor susceptibility syndrome), PMID (PubMed ID): 29762508, HGNCID: 17098, Inheritance pattern: autosomal-dominant disease, Disease entity: Plueropulomary Blastoma, Mutation: Somatic, Zygosity: heterozygous, Variant: multiple variants, Family information: NA, Case: young children, CasePresentingHPO: N/A, CasePreviousTesting: N/A, Gnomade #: N/A , Mutation type: deletion
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- Apr 2022
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twitter.com twitter.com
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ReconfigBehSci on Twitter: “RT @COGUK_ME: The @CovidGenomicsUK Mutation Explorer https://t.co/x2zsrhKj8Y is now tracking the combinations of spike substitutions known…” / Twitter. (n.d.). Retrieved April 29, 2022, from https://twitter.com/SciBeh/status/1462782003787542529
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene.
Gene Name: DICER1 PMID:33552988 HGNCID: Unavailable Inheritance Pattern:Autosomal Dominant Disease Entity: familial pleuropulmonary blastoma (PPB),cystic nephroma, ovarian Sertoli-Leydig cell tumor (SLCT), multinodular goiter, cervix embryonal rhabdomyosarcoma, Wilms’ tumor, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, differentiated thyroid carcinoma, pituitary blastoma, pineoblastoma, and sarcomas of different sites. Mutation: Nonsense, Frameshift<br /> Zygosity: Heterosygosity Variant:No ClinVar ID present Family Information:no diseases mentioned in family Case: no specified case in this article gnomAD: n/a Mutation type: Nonsense. frameshift
Tags
- familial pleuropulmonary blastoma
- SLCT
- Gene: DICER1
- differentiated thyroid carcinoma
- Inheritance Pattern: Autosomal Dominant
- ciliary body medulloepithelioma
- pituitary blastoma
- cystic nephroma
- pineoblastoma
- Mutation: Nonsense
- Mutation: Frameshift
- PPB
- nasal chondromesenchymal hamartoma
- PMID:33552988
- sarcomas
- cervix embryonal rhabdomyosarcoma
- ovarian Sertoli-Leydig cell tumor
- Wilms’ tumor
- multinodular goiter
- Zygosity: Heterosygosity
Annotators
URL
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twitter.com twitter.com
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Ravi K Gupta [@ravgup33_ravi]. (2021, November 24). This one is worrying and I’ve not said that since delta. Please get vaccinated and boosted and mask up in public as the mutations in this virus likely result in high level escape from neutralising antibodies [Tweet]. Twitter. https://twitter.com/ravgup33_ravi/status/1463626745651806208
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twitter.com twitter.com
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Prof. Christina Pagel 🇺🇦 [@chrischirp]. (2021, November 24). As well as Tom’s new one (B.1.1.529), C.1.2 seems to be spreading in S Africa—C.1.2 was the one with lots of worrying mutations first reported in August... Plus cases in S Africa suddenly increasing again in the middle of their summer. Https://t.co/fCqfOMcO83 [Tweet]. Twitter. https://twitter.com/chrischirp/status/1463504890530086917
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The DICER1 syndrome is an autosomal dominant tumor‐predisposi-tion disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer
GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation
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www.who.int www.who.int
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Update on Omicron. (n.d.). Retrieved April 22, 2022, from https://www.who.int/news/item/28-11-2021-update-on-omicron
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twitter.com twitter.com
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Dr Emma Hodcroft [@firefoxx66]. (2021, November 26). We now have B.1.1.529 sequences (designed at @nextstrain clade 21K) up in our Africa build. You can check them out below. These are from South Africa & Botswana—You can see the high number of mutations. CoVariants focal build & updates will come ASAP. https://t.co/fqBldneF5U [Tweet]. Twitter. https://twitter.com/firefoxx66/status/1464145615571623938
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twitter.com twitter.com
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Nathan Grubaugh [@NathanGrubaugh]. (2021, September 24). Hi @Newsweek 👋. I understand that #variant news has been slow recently with the near-complete dominance of Delta, but do you really need to go and make things up? Lineage R.1 is not a concern. Let me briefly explain why. (1/4) https://t.co/OD46PsXZEu [Tweet]. Twitter. https://twitter.com/NathanGrubaugh/status/1441522760832933888
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twitter.com twitter.com
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ReconfigBehSci. (2022, January 28). RT @chrischirp: BA.2 & BA.1.1 (Omicron variants) are growing in many countries. Quite what this means in terms of cases, hospitalisation… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1487066966363934720
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www.nature.com www.nature.com
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Tao, K., Tzou, P. L., Nouhin, J., Gupta, R. K., de Oliveira, T., Kosakovsky Pond, S. L., Fera, D., & Shafer, R. W. (2021). The biological and clinical significance of emerging SARS-CoV-2 variants. Nature Reviews Genetics, 1–17. https://doi.org/10.1038/s41576-021-00408-x
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twitter.com twitter.com
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nature. (2021, April 16). Coronavirus variants: Where do they come from? How do we spot them? What do they mean for COVID vaccines, and future of the pandemic? Https://t.co/NRbORu2hoF [Tweet]. @Nature. https://twitter.com/Nature/status/1383093697374474240
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Callaway, E. (2021). Heavily mutated Omicron variant puts scientists on alert. Nature, 600(7887), 21–21. https://doi.org/10.1038/d41586-021-03552-w
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twitter.com twitter.com
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Trevor Bedford on Twitter. (n.d.). Twitter. Retrieved 1 April 2022, from https://twitter.com/trvrb/status/1447566558973231104
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- Mar 2022
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twitter.com twitter.com
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ReconfigBehSci. (2022, February 21). RT @Mike_Honey_: Here’s a look at the frequency of BA.2 (Omicron) samples with an unusual mutation: ORF1a:M85del (NSP1:M85del). It was fir… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1497864547880902656
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twitter.com twitter.com
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Mia Malan. (2021, November 25). [Thread] What is the potential impact of the new B.1.1.529 #COVID19 variant? @rjlessells: 1. It’s relatively simple to detect some B.1.1.529 cases, as it’s possible to use PCR tests to do this in some cases 2. B.1.1.529 = has many mutations across different parts of the virus https://t.co/ytktqLzJUi [Tweet]. @miamalan. https://twitter.com/miamalan/status/1463846528578109444
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- Feb 2022
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twitter.com twitter.com
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Meaghan Kall. (2022, February 17). BA.2 risk assessment New this week is upgrading Immune Evasion—Amber 🟨 from low to moderate that BA.2 is antigentically different to BA.1 Unsurprising given the mutation profile, with BA.2 slightly more immune evasive than BA.1 on neuts studies https://t.co/n6DWtiRaNH [Tweet]. @kallmemeg. https://twitter.com/kallmemeg/status/1494100170195312646
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www.mercurynews.com www.mercurynews.com
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Living with COVID-19: How the virus could turn into the common cold, or something far worse. (2022, January 9). The Mercury News. https://www.mercurynews.com/2022/01/09/living-with-covid-19-how-the-virus-could-turn-into-the-common-cold-or-something-far-worse
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www.sciencedirect.com www.sciencedirect.com
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Chatterjee, D., Tauzin, A., Marchitto, L., Gong, S. Y., Boutin, M., Bourassa, C., Beaudoin-Bussières, G., Bo, Y., Ding, S., Laumaea, A., Vézina, D., Perreault, J., Gokool, L., Morrisseau, C., Arlotto, P., Fournier, É., Guilbault, A., Delisle, B., Levade, I., … Finzi, A. (2022). SARS-CoV-2 Omicron Spike recognition by plasma from individuals receiving BNT162b2 mRNA vaccination with a 16-weeks interval between doses. Cell Reports, 0(0). https://doi.org/10.1016/j.celrep.2022.110429
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theconversation.com theconversation.com
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Willett, J. D. S. (n.d.). Omicron: Vaccines remain the best defence against this COVID-19 variant and others. The Conversation. Retrieved February 8, 2022, from http://theconversation.com/omicron-vaccines-remain-the-best-defence-against-this-covid-19-variant-and-others-174195
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twitter.com twitter.com
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Yaneer Bar-Yam on Twitter. (n.d.). Twitter. Retrieved February 7, 2022, from https://twitter.com/yaneerbaryam/status/1474091037861761026
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twitter.com twitter.com
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Trisha Greenhalgh. (2022, January 8). Apart from (e.g.): 1. Severe disease in clinically vulnerable (they are people too); 2. Long covid in many; 3. Strokes / heart attacks / kidney failure from micro-clots; 4. New-onset diabetes and MIS-C in children; 5. High potential for recombinant mutations. [Tweet]. @trishgreenhalgh. https://twitter.com/trishgreenhalgh/status/1479738523511136258
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twitter.com twitter.com
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Ulrich Elling. (2022, January 12). While #Omicron BA.1 leads the race, the little sister BA.2 is catching up in numbers. They are rather different with likely functional implications. BA.2 might be more immune evasive in RBD, less in NTD. And due to reduced mutation load in NTD maybe different fusion properties? Https://t.co/kEACjzQDs3 [Tweet]. @EllingUlrich. https://twitter.com/EllingUlrich/status/1481214901997682692
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twitter.com twitter.com
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Jonathan Li on Twitter: “There’s a lineage of Omicron that’s gained the R346K mutation (BA.1.1). This one could spell some trouble for the AZ mAb (tixagevimab/cilgavimab, Evusheld) that’s being used for pre-exposure prophylaxis. If you want to learn about tix/cil vs Omicron, read on 1/7” / Twitter. (n.d.). Retrieved February 6, 2022, from https://twitter.com/DrJLi/status/1487479972293853188
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twitter.com twitter.com
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Trevor Bedford. (2022, January 28). Omicron viruses can be divided into two major groups, referred to as PANGO lineages BA.1 and BA.2 or @nextstrain clades 21K and 21L. The vast majority of globally sequenced Omicron have been 21K (~630k) compared a small minority of 21L (~18k), but 21L is gaining ground. 1/15 [Tweet]. @trvrb. https://twitter.com/trvrb/status/1487105396879679488
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twitter.com twitter.com
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Prof. Christina Pagel. (2022, January 26). here is BA.2 growth in Denmark. Https://t.co/stake8vHvq [Tweet]. @chrischirp. https://twitter.com/chrischirp/status/1486300603735330816
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- Jan 2022
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www.nejm.org www.nejm.org
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Pajon, R., Doria-Rose, N. A., Shen, X., Schmidt, S. D., O’Dell, S., McDanal, C., Feng, W., Tong, J., Eaton, A., Maglinao, M., Tang, H., Manning, K. E., Edara, V.-V., Lai, L., Ellis, M., Moore, K. M., Floyd, K., Foster, S. L., Posavad, C. M., … Montefiori, D. C. (2022). SARS-CoV-2 Omicron Variant Neutralization after mRNA-1273 Booster Vaccination. New England Journal of Medicine, 0(0), null. https://doi.org/10.1056/NEJMc2119912
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twitter.com twitter.com
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Cornelius Roemer. (2021, December 22). @mccarthy_kr I took a look at all these NY sequences. I don’t think these point mutations S:681H are real. Why? Because they appear all over the Omicron diversity. Some sequences have S:346K, some S:701V, most miss S679K, a few have it. That’s the signature of contamination/co-infection. Https://t.co/DcJD4q44EM [Tweet]. @CorneliusRoemer. https://twitter.com/CorneliusRoemer/status/1473507369455923203
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www.niid.go.jp www.niid.go.jp
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Active epidemiological investigation on SARS-CoV-2 infection caused by Omicron variant (Pango lineage B.1.1.529) in Japan: Preliminary report on infectious period. (n.d.). Retrieved January 14, 2022, from https://www.niid.go.jp/niid/en/2019-ncov-e/10884-covid19-66-en.html
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- Dec 2021
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twitter.com twitter.com
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Eric Topol. (2021, November 27). View of key mutations of Omicron’s 50, with 30 in the spike protein, 15 in its receptor binding domain https://ft.com/content/42c5ff3d-e676-4076-9b9f-7243a00cba5e http://covariants.org @EllingUlrich @_b_meyer https://t.co/onMoNFVLFJ [Tweet]. @EricTopol. https://twitter.com/EricTopol/status/1464452102382448643
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www.medrxiv.org www.medrxiv.org
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Wilhelm, A., Widera, M., Grikscheit, K., Toptan, T., Schenk, B., Pallas, C., Metzler, M., Kohmer, N., Hoehl, S., Helfritz, F. A., Wolf, T., Goetsch, U., & Ciesek, S. (2021). Reduced Neutralization of SARS-CoV-2 Omicron Variant by Vaccine Sera and monoclonal antibodies (p. 2021.12.07.21267432). https://doi.org/10.1101/2021.12.07.21267432
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github.com github.com
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Proposal to split B.1.1.529 to incorporate a newly characterised sibling lineage · Issue #361 · cov-lineages/pango-designation. (n.d.). GitHub. Retrieved 17 December 2021, from https://github.com/cov-lineages/pango-designation/issues/361
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www.medrxiv.org www.medrxiv.org11779531
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Garcia-Beltran, W. F., Denis, K. J. S., Hoelzemer, A., Lam, E. C., Nitido, A. D., Sheehan, M. L., Berrios, C., Ofoman, O., Chang, C. C., Hauser, B. M., Feldman, J., Gregory, D. J., Poznansky, M. C., Schmidt, A. G., Iafrate, A. J., Naranbhai, V., & Balazs, A. B. (2021). MRNA-based COVID-19 vaccine boosters induce neutralizing immunity against SARS-CoV-2 Omicron variant (p. 2021.12.14.21267755). https://doi.org/10.1101/2021.12.14.21267755
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twitter.com twitter.com
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Carl T. Bergstrom. (2021, November 26). I’d be careful not to overinterpret the following graph from @jburnmurdoch. Yes, the fraction of B.1.1.529 is increasing faster. But I think that is that is largely due to different denominators. Https://t.co/NDhSqJpLlw [Tweet]. @CT_Bergstrom. https://twitter.com/CT_Bergstrom/status/1464061037292883970
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Mahase, E. (2021). Covid-19: Do vaccines work against omicron—and other questions answered. BMJ, 375, n3062. https://doi.org/10.1136/bmj.n3062
Tags
- infection rate
- booster
- PCR
- travel ban
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Annotators
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www.gavi.org www.gavi.org
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What do we know about the new B.1.1.529 coronavirus variant and should we be worried? (n.d.). Retrieved 10 December 2021, from https://www.gavi.org/vaccineswork/what-we-know-about-new-b11529-coronavirus-variant-so-far
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inews.co.uk inews.co.uk
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Omicron cases may be far higher than currently confirmed, variant marker analysis reveals. (2021, December 8). Inews.Co.Uk. https://inews.co.uk/news/health/omicron-covid-cases-may-be-seven-times-higher-than-confirmed-1341156
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www.bbc.co.uk www.bbc.co.uk
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New Covid variant: How worried should we be? (2021, November 25). BBC News. https://www.bbc.com/news/health-59418127
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www.theguardian.com www.theguardian.com
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Devlin, H., & Kollewe, J. (2021, November 26). BioNTech says it could tweak Covid vaccine in 100 days if needed. The Guardian. https://www.theguardian.com/society/2021/nov/26/biontech-says-it-could-tweak-covid-vaccine-in-100-days-if-needed
Tags
- booster
- Omicron
- development
- Pfizer
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Annotators
URL
theguardian.com/society/2021/nov/26/biontech-says-it-could-tweak-covid-vaccine-in-100-days-if-needed -
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Cotterill, J. (2021, November 26). South African anger over ‘rushed’ Covid travel restrictions. Financial Times. https://www.ft.com/content/6a177732-4faf-4ecb-adc1-667c22248e0f
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www.abbott.com www.abbott.com
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Evaluating Omicron and Other COVID Variants to Ensure Test Effectiveness. (n.d.). Abbott. Retrieved December 3, 2021, from https://www.abbott.com/corpnewsroom/diagnostics-testing/monitoring-covid-variants-to-ensure-test-effectiveness.html
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www.statnews.com www.statnews.com
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Cause for optimism on Omicron: Our immune systems aren’t blank slates. (2021, December 1). STAT. https://www.statnews.com/2021/12/01/a-reason-for-optimism-on-omicron-our-immune-systems-are-not-blank-slates/
Tags
- Omicron
- variant
- immune response
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- protection
- lang:en
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- vaccine efficacy
- previous infection
Annotators
URL
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twitter.com twitter.comTwitter1
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Kristian G. Andersen on Twitter. (n.d.). Twitter. Retrieved 3 December 2021, from https://twitter.com/K_G_Andersen/status/1465822536629821442
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news.sky.com news.sky.com
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COVID-19: Most Omicron cases are “mild” and there’s no evidence to suggest vaccines may be less effective against the variant, says WHO official. (n.d.). Sky News. Retrieved December 2, 2021, from https://news.sky.com/story/covid-19-most-omicron-cases-are-mild-and-theres-no-evidence-to-suggest-vaccines-may-be-less-effective-against-the-variant-says-who-12483729
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twitter.com twitter.com
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nference. (2021, November 27). Here is how B.1.1.529 (#Omicron #B11529) compares to Alpha, Beta, Gamma, Delta variants. Omicron has highest novel Spike mutations including striking cluster on the “crown” suggesting significant selection pressure & antigenic distinction from prior strains (Credits: Nference) https://t.co/4oZQbjhbG8 [Tweet]. @_nference. https://twitter.com/_nference/status/1464404770098229250
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- Nov 2021
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www.npr.org www.npr.org
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N, P, & R. (2021, November 27). Does omicron pose a risk to the vaccinated? Too early to tell, epidemiologist says. NPR. https://www.npr.org/2021/11/27/1059539509/too-early-to-tell-whether-omicron-poses-a-threat-to-vaccinated-epidemiologist-sa
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tamil.oneindia.com tamil.oneindia.com
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P681H, N679K, N501Y
B.1.1529 MUTATION OMICRON
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twitter.com twitter.com
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Meaghan Kall. (2021, November 26). B.1.1.529 in the UK • Designated a Variant Under Investigation (VUI) VUI-21NOV-01 • No cases in the UK 🇬🇧 to date • Enhanced case finding & rapid assessment is underway https://t.co/0DGvlgvdPR [Tweet]. @kallmemeg. https://twitter.com/kallmemeg/status/1464210457795907588
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- Oct 2021
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www.dailymail.co.uk www.dailymail.co.uk
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UK’s daily Covid deaths hit SEVEN-MONTH high of 223 while cases jump 13% in a week to 43,738 | Daily Mail Online. (n.d.). Retrieved October 25, 2021, from https://www.dailymail.co.uk/news/article-10108203/UKs-daily-Covid-deaths-hit-SEVEN-MONTH-high-223-cases-jump-13-week-43-738.html
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www.theguardian.com www.theguardian.com
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Davis, N. (2021, October 19). Offshoot of Covid Delta variant on the rise in England. The Guardian. https://www.theguardian.com/world/2021/oct/19/fears-grow-in-england-over-rise-of-new-covid-delta-variant
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www.biorxiv.org www.biorxiv.org
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Rono, E. K. (2021). Covid-19 genomic analysis reveals clusters of emerging sublineages within the delta variant [Preprint]. Genomics. https://doi.org/10.1101/2021.10.08.463334
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Mlcochova, P., Kemp, S. A., Dhar, M. S., Papa, G., Meng, B., Ferreira, I. A. T. M., Datir, R., Collier, D. A., Albecka, A., Singh, S., Pandey, R., Brown, J., Zhou, J., Goonawardane, N., Mishra, S., Whittaker, C., Mellan, T., Marwal, R., Datta, M., … Gupta, R. K. (2021). SARS-CoV-2 B.1.617.2 Delta variant replication and immune evasion. Nature, 1–6. https://doi.org/10.1038/s41586-021-03944-y
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twitter.com twitter.com
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Pablo Tsukayama on Twitter. (n.d.). Twitter. Retrieved 4 October 2021, from https://twitter.com/pablotsukayama/status/1435725621599027202
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- Sep 2021
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www.nytimes.com www.nytimes.com
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Zimmer, C., Corum, J., & Wee, S.-L. (2020, June 10). Coronavirus Vaccine Tracker. The New York Times. https://www.nytimes.com/interactive/2020/science/coronavirus-vaccine-tracker.html
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twitter.com twitter.com
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ReconfigBehSci. (2021, August 22). RT @chrischirp: Some good news from PHE’s Friday Delta tech briefing update: Two sublineages of Delta called AY.1 and AY.2 do not seem to b… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1430638002586329088
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- Aug 2021
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www.biorxiv.org www.biorxiv.org
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Liu, Y., Arase, N., Kishikawa, J., Hirose, M., Li, S., Tada, A., Matsuoka, S., Arakawa, A., Akamatsu, K., Ono, C., Jin, H., Kishida, K., Nakai, W., Kohyama, M., Nakagawa, A., Yamagishi, Y., Nakagami, H., Kumanogoh, A., Matsuura, Y., … Arase, H. (2021). The SARS-CoV-2 Delta variant is poised to acquire complete resistance to wild-type spike vaccines (p. 2021.08.22.457114). https://doi.org/10.1101/2021.08.22.457114
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www.thebulwark.com www.thebulwark.com
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What Is “Natural Immunity”? And Why Should You Get the Vaccine Even if You Already Had COVID? - The Bulwark. (n.d.). Retrieved August 11, 2021, from https://www.thebulwark.com/what-is-natural-immunity-and-why-should-you-get-the-vaccine-even-if-you-already-had-covid/
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- Jun 2021
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www.bmj.com www.bmj.com
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Darby, Alistair C., and Julian A. Hiscox. ‘Covid-19: Variants and Vaccination’. BMJ 372 (23 March 2021): n771. https://doi.org/10.1136/bmj.n771.
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news.harvard.edu news.harvard.edu
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Vaccines should end the pandemic, despite the variants, say experts – Harvard Gazette. (n.d.). Retrieved June 19, 2021, from https://news.harvard.edu/gazette/story/2021/02/vaccines-should-end-the-pandemic-despite-the-variants-say-experts/
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twitter.com twitter.com
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ReconfigBehSci. (2021, June 8). RT @TWenseleers: Across whole of England, 76% [74-78%] of all newly diagnosed infections now B.1.617.2. We see familiar pattern of combinat… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1402633076396552193
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twitter.com twitter.com
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ReconfigBehSci. (2021, June 5). RT @TWenseleers: Estimated growth rate advantage of B.1.617.2 vs B.1.1.7 is 8.3%/day [7.9-8.8%] 95% CLs and 4%/day [3-5%] for B.1.617.1 vs… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1402243029407178757
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twitter.com twitter.com
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ReconfigBehSci. (2021, June 14). RT @AdamJKucharski: Compare relationship between R and proportion of sequences consistent with the B.1.1.7 variant in autumn 2020 (below le… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1404604886117797888
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www.cell.com www.cell.com
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SARS-CoV-2 mRNA vaccination induces functionally diverse antibodies to NTD, RBD and S2: Cell. (n.d.). Retrieved 18 June 2021, from https://www.cell.com/cell/fulltext/S0092-8674(21)00706-6
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graphql-ruby.org graphql-ruby.org
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It works, but a stronger solution is to treat errors as data.
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In mutations, when errors happen, the other fields may return nil. So, if those other fields have null: false, but they return nil, the GraphQL will panic and remove the whole mutation from the response, including the errors!
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graphql-ruby.org graphql-ruby.org
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In general, top-level errors should only be used for exceptional circumstances when a developer should be made aware that the system had some kind of problem. For example, the GraphQL specification says that when a non-null field returns nil, an error should be added to the "errors" key. This kind of error is not recoverable by the client. Instead, something on the server should be fixed to handle this case. When you want to notify a client some kind of recoverable issue, consider making error messages part of the schema, for example, as in mutation errors.
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www.theguardian.com www.theguardian.com
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UK tightens borders and travel rules as variants spark new alarm | Coronavirus | The Guardian. (n.d.). Retrieved June 5, 2021, from https://www.theguardian.com/world/2021/jun/03/concern-over-delta-covid-variant-tightens-borders-of-uk
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www.bmj.com www.bmj.com
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Mahase, E. (2021). Covid-19: Government faces legal challenge over alleged suppression of school data. BMJ, 373, n1408. https://doi.org/10.1136/bmj.n1408
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- May 2021
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www.thelancet.com www.thelancet.com
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Ramanathan, M., Ferguson, I. D., Miao, W., & Khavari, P. A. (2021). SARS-CoV-2 B.1.1.7 and B.1.351 spike variants bind human ACE2 with increased affinity. The Lancet Infectious Diseases, 0(0). https://doi.org/10.1016/S1473-3099(21)00262-0
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twitter.com twitter.com
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John Burn-Murdoch. (2021, May 7). NEW: time for a proper thread on B.1.617.2, the subtype of the Indian variant that has been moved to ‘variant of concern’ today by Public Health England. First, it’s clear case numbers from this lineage are growing faster than other imported variants have done in the UK. https://t.co/hUUzBvCsY1 [Tweet]. @jburnmurdoch. https://twitter.com/jburnmurdoch/status/1390666071724765185
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www.nature.com www.nature.com
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Mallapaty, S. (2021). How a worrisome coronavirus variant spread unnoticed. Nature. https://doi.org/10.1038/d41586-021-01285-4
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twitter.com twitter.com
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Eric Topol. (2021, May 1). Downgrading the concern on B.1.617, the poorly named ‘double mutant’—98% effectiveness of mRNA vaccine in an Israeli outbreak @CT_Bergstrom https://t.co/tGbuwPUmAL —Lab studies: Minimal immune evasion, expected full protection from vaccine @GuptaR_lab https://t.co/AIp24G0ROK https://t.co/AK20UWlDBD [Tweet]. @EricTopol. https://twitter.com/EricTopol/status/1388539223230140422
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twitter.com twitter.com
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ReconfigBehSci. (2021, May 1). RT @GuptaR_lab: Given the dire situation in India and questions regarding the new variant B.1.617, the so called ‘Double Mutant’ we are sha… [Tweet]. @SciBeh. https://twitter.com/SciBeh/status/1388915829383720961
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www.scientificamerican.com www.scientificamerican.com
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Brazil’s Pandemic Is a “Biological Fukushima” That Threatens the Entire Planet—Scientific American. (n.d.). Retrieved May 12, 2021, from https://www.scientificamerican.com/article/brazils-pandemic-is-a-lsquo-biological-fukushima-rsquo-that-threatens-the-entire-planet/
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www.theguardian.com www.theguardian.com
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Davis, N. (2020, May 26). Research reveals gene role in both dementia and severe Covid-19. The Guardian. https://www.theguardian.com/world/2020/may/26/research-reveals-gene-role-in-both-dementia-and-severe-covid-19
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virological.org virological.org
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Genomic characterisation of an emergent SARS-CoV-2 lineage in Manaus: Preliminary findings - SARS-CoV-2 coronavirus / nCoV-2019 Genomic Epidemiology. (2021, January 25). Virological. https://virological.org/t/genomic-characterisation-of-an-emergent-sars-cov-2-lineage-in-manaus-preliminary-findings/586/2
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science.sciencemag.org science.sciencemag.org
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Faria, N. R., Mellan, T. A., Whittaker, C., Claro, I. M., Candido, D. da S., Mishra, S., Crispim, M. A. E., Sales, F. C. S., Hawryluk, I., McCrone, J. T., Hulswit, R. J. G., Franco, L. A. M., Ramundo, M. S., Jesus, J. G. de, Andrade, P. S., Coletti, T. M., Ferreira, G. M., Silva, C. A. M., Manuli, E. R., … Sabino, E. C. (2021). Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil. Science. https://doi.org/10.1126/science.abh2644
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- Apr 2021
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www.theguardian.com www.theguardian.com
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Safi, M. (2021, April 21). India’s shocking surge in Covid cases follows baffling decline. The Guardian. https://www.theguardian.com/world/2021/apr/21/india-shocking-surge-in-covid-cases-follows-baffling-decline
Tags
- social distancing
- fatality
- science
- is:news
- india
- surge
- COVID-19
- mutation
- wave
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- variant
- shortage
- delhi
- epidemiology
- oxygen
- infection
- public health
- population
Annotators
URL
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www.theguardian.com www.theguardian.com
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Farrer, M. (2021, April 22). Why is India seeing such a huge surge in Covid-19 cases? The Guardian. https://www.theguardian.com/world/2021/apr/21/why-is-india-seeing-such-a-huge-surge-in-covid-19-cases
Tags
- travel
- maharashtra
- home delivery
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- supplies
- CDC
- united kingdom
Annotators
URL
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blogs.bmj.com blogs.bmj.com
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Nabavi, N., & Dobson, J. (2021, April 21). Covid-19 new variants—known unknowns. The BMJ Opinion. https://blogs.bmj.com/bmj/2021/04/21/covid-19-new-variants-known-unknowns/?utm_campaign=shareaholic&utm_medium=twitter&utm_source=socialnetwork
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twitter.com twitter.com
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Trevor Bedford. (2021, January 14). After ~10 months of relative quiescence we’ve started to see some striking evolution of SARS-CoV-2 with a repeated evolutionary pattern in the SARS-CoV-2 variants of concern emerging from the UK, South Africa and Brazil. 1/19 [Tweet]. @trvrb. https://twitter.com/trvrb/status/1349774271095062528
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jamanetwork.com jamanetwork.com
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Rubin, R. (2021). COVID-19 Vaccines vs Variants—Determining How Much Immunity Is Enough. JAMA, 325(13), 1241. https://doi.org/10.1001/jama.2021.3370
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- Mar 2021
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www.krisp.org.za www.krisp.org.za
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de Oliveira T, Lutucuta S, Nkengasong J, Morais J, Paixao JP, Neto Z, Afonso P, Miranda J, David K, Ingles L, Amilton P A P R R C, Freitas H R, Mufinda F, Tessema K S , Tegally H, San E J, Wilkinson E, Giandhari J, Pillay S, Giovanetti M, Naidoo Y, Katzourakis A, Ghafari M, Singh L, Tshiabuila D, Martin D, Lessells R. (2021) A Novel Variant of Interest of SARS-CoV-2 with Multiple Spike Mutations Detected through Travel Surveillance in Africa. medRxiv. https://www.krisp.org.za/publications.php?pubid=330. Accessed 26 March 2021.
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jamanetwork.com jamanetwork.com
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Edara, Venkata Viswanadh, William H. Hudson, Xuping Xie, Rafi Ahmed, and Mehul S. Suthar. “Neutralizing Antibodies Against SARS-CoV-2 Variants After Infection and Vaccination.” JAMA, March 19, 2021. https://doi.org/10.1001/jama.2021.4388.
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www.scientificamerican.com www.scientificamerican.com
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Kwon, K. (n.d.). Second Coronavirus Strain May Be More Infectious—but Some Scientists Are Skeptical. Scientific American. Retrieved July 17, 2020, from https://www.scientificamerican.com/article/second-coronavirus-strain-may-be-more-infectious-but-some-scientists-are-skeptical/
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virological.org virological.org
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Virological. ‘Recombinant SARS-CoV-2 Genomes Involving Lineage B.1.1.7 in the UK - SARS-CoV-2 Coronavirus / SARS-CoV-2 Molecular Evolution’, 17 March 2021. https://virological.org/t/recombinant-sars-cov-2-genomes-involving-lineage-b-1-1-7-in-the-uk/658.
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academic.oup.com academic.oup.com
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The dominant mutant D614G
D614G mutation not associated with higher mortality, but is associated with a higher viral load and affecting younger patients https://doi.org/10.1016/j.cell.2020.11.020 . D614G mutation proposed to allow increased epitope exposure and greater neutralisation, thus should not affect vaccine efficacy https://doi.org/10.1016/j.chom.2020.11.012
Additionally a N501Y mutation in the S1 has been reported. This mutation is already present in the UK SARS-CoV-2 variant (20B/501Y.V1, B1.1.7 lineage), and is associated with high higher rates of transmission through increased receptor binding https://doi.org/10.1101/2021.01.04.425316 and potentially higher viral loads https://doi.org/10.1101/2021.01.12.20249080 . However, post vaccination sera can neutralise this variant and thus current vaccines in circulation should protect against this strain https://doi.org/10.1101/2021.01.19.21249592 .
Interestingly, examination of the global effects of the N501Y mutation revealed that MHCII presentation was poorer than wild type controls. This implicates the N501Y mutation in hindering immune cell cooperation, resulting in immune escape https://doi.org/10.1101/2021.02.02.429431
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possibly via reduced shedding of the S1 domain
and also possibly by enhancing the lysosomal trafficking of the SARS-CoV-2 spike protein https://doi.org/10.1101/2020.12.08.417022
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S1 mediates receptor binding
Another mutation in the receptor binding domain of the S protein, E484K, has been found in the South African and Brazilian variants of the virus. The glutamate to lysine substitution switches the charge on the flexible loop region of the RBD resulting in the formation of novel favourable contacts https://doi.org/10.1101/2021.01.13.426558 . Early studies indicate that higher antibody titres will be required post vaccination to neutralise the variant https://doi.org/10.1101/2021.01.26.21250543
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ACE2 expression varies by age and ethnicity and has been associated with comorbidities and severe COVID-19
Indeed, a recent study indicates that diversity of ACE2 expression amongst those of different ethnicities impacts selection pressures for mutations in SARS-CoV-2, for example, the D614G mutation has become dominant in North America, Europe and Africa where ACE2 expression amongst the population is low in comparison with those from China, where D614G is not the dominant form https://doi.org/10.3390/genes12010016
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the Guardian. ‘How a String of Failures by the British Government Helped Covid-19 to Mutate | Anthony Costello’, 22 December 2020. http://www.theguardian.com/commentisfree/2020/dec/22/uk-government-blamed-covid-19-mutation-occur.
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Lawton, Graham. ‘Is the Coronavirus Evolving and Will It Become More or Less Deadly?’ New Scientist. Accessed 25 February 2021. https://www.newscientist.com/article/mg24833053-600-is-the-coronavirus-evolving-and-will-it-become-more-or-less-deadly/.
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- Feb 2021
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twitter.com twitter.com
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Eric Feigl-Ding. (2020, December 6). HUMAN➡️MINKS➡️HUMAN transmission on mink farms in NL. 68% of the tested farm workers and/or contacts had evidence of #SARSCoV2 infection. The coronavirus mutated & even evolved within minks before transmitted back to humans—& keeps #COVID19 perpetuating. Https://t.co/5ARZ6Pq5mO https://t.co/fhrQC9ZVDo [Tweet]. @DrEricDing. https://twitter.com/DrEricDing/status/1335419078446551041
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Here’s what we know about the new variant of coronavirus | Sharon Peacock. (2020, December 22). The Guardian. http://www.theguardian.com/commentisfree/2020/dec/22/new-variant-coronavirus-genomic-sars-cov-2-pandemic
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www.nature.com www.nature.com
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Callaway, E. (2021). ‘A bloody mess’: Confusion reigns over naming of new COVID variants. Nature, 589(7842), 339–339. https://doi.org/10.1038/d41586-021-00097-w
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Science Says Sunday – 5 reasons I’m still wearing my mask even after getting the COVID-19 vaccine. (2021, February 22). Chic in Academia. https://chicinacademia.com/2021/02/21/science-says-sunday-5-reasons-im-still-wearing-my-mask-even-after-getting-the-covid-19-vaccine/
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www.biorxiv.org www.biorxiv.org
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Wibmer, C. K., Ayres, F., Hermanus, T., Madzivhandila, M., Kgagudi, P., Lambson, B. E., Vermeulen, M., Berg, K. van den, Rossouw, T., Boswell, M., Ueckermann, V., Meiring, S., Gottberg, A. von, Cohen, C., Morris, L., Bhiman, J. N., & Moore, P. L. (2021). SARS-CoV-2 501Y.V2 escapes neutralization by South African COVID-19 donor plasma. BioRxiv, 2021.01.18.427166. https://doi.org/10.1101/2021.01.18.427166
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Vaccinations Could Limit Further Mutations. (n.d.). Retrieved 18 February 2021, from https://brief19.com/2021/02/17/brief
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Lawton, G. (n.d.). Exclusive: Two variants have merged into heavily mutated coronavirus. New Scientist. Retrieved 17 February 2021, from https://www.newscientist.com/article/2268014-exclusive-two-variants-have-merged-into-heavily-mutated-coronavirus/
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Zimmer, C. (2021, February 14). 7 Virus Variants Found in U.S. Carrying the Same Mutation. The New York Times. https://www.nytimes.com/2021/02/14/health/coronavirus-variants-evolution.html
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Mannix, L. (2021, February 8). Where did these COVID-19 variants come from – and what are they? The Sydney Morning Herald. https://www.smh.com.au/national/what-do-new-variants-of-the-coronavirus-mean-for-us-20210126-p56wuo.html
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Covid vaccines extremely safe, finds UK regulator. (2021, February 5). BBC News. https://www.bbc.com/news/health-55946912
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Shen, X., Tang, H., McDanal, C., Wagh, K., Fischer, W. M., Theiler, J., Yoon, H., Li, D., Haynes, B. F., Saunders, K. O., Gnanakaran, S., Hengartner, N. W., Pajon, R., Smith, G., Dubovsky, F., Glenn, G. M., Korber, B. T., & Montefiori, D. C. (2021). SARS-CoV-2 Variant B.1.1.7 is Susceptible to Neutralizing Antibodies Elicited by Ancestral Spike Vaccines (SSRN Scholarly Paper ID 3777473). Social Science Research Network. https://papers.ssrn.com/abstract=3777473
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Lawton. G. (2020) Coronavirus family tree reveals the virus is hardly mutating. New Scientist. Retrieved from: https://www.newscientist.com/article/2254387-coronavirus-family-tree-reveals-the-virus-is-hardly-mutating/?utm_medium=social&utm_campaign=echobox&utm_source=Twitter#Echobox=1600082893
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- Aug 2020
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pubs.acs.org pubs.acs.org
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Zhang, Q., Honko, A., Zhou, J., Gong, H., Downs, S. N., Vasquez, J. H., Fang, R. H., Gao, W., Griffiths, A., & Zhang, L. (2020). Cellular Nanosponges Inhibit SARS-CoV-2 Infectivity. Nano Letters. https://doi.org/10.1021/acs.nanolett.0c02278
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- Jul 2020
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www.biorxiv.org www.biorxiv.org
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Yurkovetskiy, L., Wang, X., Pascal, K. E., Tomkins-Tinch, C., Nyalile, T., Wang, Y., Baum, A., Diehl, W. E., Dauphin, A., Carbone, C., Veinotte, K., Egri, S. B., Schaffner, S. F., Lemieux, J. E., Munro, J., Rafique, A., Barve, A., Sabeti, P. C., Kyratsous, C. A., … Luban, J. (2020). Structural and Functional Analysis of the D614G SARS-CoV-2 Spike Protein Variant. BioRxiv, 2020.07.04.187757. https://doi.org/10.1101/2020.07.04.187757
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Ackerman, T. (2020, July 4). Evidence growing that Houston’s main coronavirus strain is more contagious than original. HoustonChronicle.Com. https://www.houstonchronicle.com/news/houston-texas/houston/article/coronavirus-evidence-growing-houston-strain-mutant-15386157.php
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www.nationalgeographic.com www.nationalgeographic.com
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How coronavirus mutations can track its spread—And disprove conspiracies. (2020, March 26). Science. https://www.nationalgeographic.com/science/2020/03/how-coronavirus-mutations-can-track-its-spread-and-disprove-conspiracies/
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www.biorxiv.org www.biorxiv.org
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Corbett, K. S., Edwards, D., Leist, S. R., Abiona, O. M., Boyoglu-Barnum, S., Gillespie, R. A., Himansu, S., Schäfer, A., Ziwawo, C. T., DiPiazza, A. T., Dinnon, K. H., Elbashir, S. M., Shaw, C. A., Woods, A., Fritch, E. J., Martinez, D. R., Bock, K. W., Minai, M., Nagata, B. M., … Graham, B. S. (2020). SARS-CoV-2 mRNA Vaccine Development Enabled by Prototype Pathogen Preparedness. BioRxiv, 2020.06.11.145920. https://doi.org/10.1101/2020.06.11.145920
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www.biorxiv.org www.biorxiv.org
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Zhang, L., Jackson, C. B., Mou, H., Ojha, A., Rangarajan, E. S., Izard, T., Farzan, M., & Choe, H. (2020). The D614G mutation in the SARS-CoV-2 spike protein reduces S1 shedding and increases infectivity. BioRxiv, 2020.06.12.148726. https://doi.org/10.1101/2020.06.12.148726
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Sapoval, N., Mahmoud, M., Jochum, M. D., Liu, Y., Elworth, R. A. L., Wang, Q., Albin, D., Ogilvie, H., Lee, M. D., Villapol, S., Hernandez, K., Berry, I. M., Foox, J., Beheshti, A., Ternus, K., Aagaard, K. M., Posada, D., Mason, C., Sedlazeck, F. J., & Treangen, T. J. (2020). Hidden genomic diversity of SARS-CoV-2: Implications for qRT-PCR diagnostics and transmission. BioRxiv, 2020.07.02.184481. https://doi.org/10.1101/2020.07.02.184481
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- Jun 2020
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www.biorxiv.org www.biorxiv.org
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Starr, T. N., Greaney, A. J., Hilton, S. K., Crawford, K. H., Navarro, M. J., Bowen, J. E., Tortorici, M. A., Walls, A. C., Veesler, D., & Bloom, J. D. (2020). Deep mutational scanning of SARS-CoV-2 receptor binding domain reveals constraints on folding and ACE2 binding [Preprint]. Microbiology. https://doi.org/10.1101/2020.06.17.157982
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Bloom Lab. (2020, June 18). "We've experimentally measured how all amino-acid mutations to the #SARSCoV2 spike RBD affect ACE2 binding and expression of folded protein in a deep mutational scanning study led by @tylernstarr & Allie Greaney:https://biorxiv.org/content/10.1101/2020.06.17.157982v1 Why is this important? (1/n)" Twitter. https://twitter.com/jbloom_lab/status/1273468539484213248
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Balloux, F. (2020, May 22) A thread written by @BallouxFrancois. Threader. https://threader.app/thread/1263745877702737920
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Andersen, K.G., Rambaut, A., Lipkin, W.I. et al. The proximal origin of SARS-CoV-2. Nat Med 26, 450–452 (2020). https://doi.org/10.1038/s41591-020-0820-9
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Krzywinski, M. F., Martin. (n.d.). Virus Mutations Reveal How COVID-19 Really Spread. Scientific American. Retrieved May 6, 2020, from https://www.scientificamerican.com/article/virus-mutations-reveal-how-covid-19-really-spread1/
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- May 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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SRSF1-Regulated Alternative Splicing in Breast Cancer
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www.cell.com www.cell.com
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Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types
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- Nov 2017
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gmt.genome.wustl.edu gmt.genome.wustl.edu
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SomaticSniper
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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tier 1 contains all changes in the amino acid coding regions of annotated exons, consensus splice-site regions, and RNA genes (including microRNA genes). Tier 2 contains changes in highly conserved regions of the genome or regions that have regulatory potential. Tier 3 contains mutations in the nonrepetitive part of the genome that does not meet tier 2 criteria, and tier 4 contains mutations in the remainder of the genome
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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The background puzzle: how identical mutations in the same gene lead to different disease symptoms
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- Sep 2017
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www.nature.com www.nature.com
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Parental influence on human germline de novo mutations in 1,548 trios from Iceland
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