- Oct 2024
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drive.google.com drive.google.com
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Case: patient is named case #2, male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Hyperammonemia (HP:0001987), oriticaciduria (HP:0003218), low plasma citrulline (HP:0003572), neonatal onset(HP:0003623), Hyperglutaminemia (HP:0003217)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA was isolated from lymphocytes. To examine the small mutations in the coding region of the OTC gene, all 10 exons and their flanking intron regions were amplified using PCR, and the nucleotide sequences of the amplified products were determined. To determine the intron 5 sequence of case 2, PCR was performed using primers OTCex5F and OTCint5R, and primers OTCint5F and OTCex6R (Table 1, Fig. 3). The amplified products were subcloned into the pT7 vector and the inserted DNA was sequenced using an automated DNA sequencer. Allopurinol test
Supplemental Data: TABLE 1, Notes:
Variant: NM_000531.6: c.540+265G>A
ClinVarID: NA
CAID: CA658658977
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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- Jul 2024
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drive.google.com drive.google.com
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Case: patient #10, Male, Argentine
Disease Assertion: UCD/OTCD
Family Info: family history of the disease,
Case Presenting HPOs: Neonatal onset(HP:0003623), Hyperammonemia HP:0001987
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The OTC gene mutations were identified using PCR amplification, classical sequencing (Sanger), and multiplex ligation-dependent probe amplification.10,11 Mutations were identified by comparison with the GenBank reference sequence for human OTC (GenBank entries: NG_008471.1, NP 000522.3, NM 000531.5, NC 000023.11) Missense mutations were analyzed using different computational algorithms: CLUSTALW2 (http://www.clustal.org/clustal2/), SIFT (http://blocks.fhcrc.org/sift/SIFT.html),Polyphen2(http://genetics.bwh.harvard.edu/pph/),PoPMuSiC(http://babylone.ulb.ac.be/popmusic/), and SIFT Indel(http://siftdna.org/www/SIFT_indels2.html).
Supplemental Data: Table 1 Notes: died at 6 months and had 2 brothers that died a neonatal stage
Variant: NM_000531.6: c.540+1G>A
ClinVarID: 1458773
CAID: CA412724226
gnomAD: X-38381340-A-T
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #11, female, 35yo, slovenian
Disease Assertion: UCD/OTCD
Family Info: family history of the disease,
Case Presenting HPOs: Adult onset(HP:0003581), hyperammonemia(HP:0001987), protein avoidance (HP:0002038)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Sequencing was performed at a 3rd-party sequencing center using a standardized seq of procedures following PCR-free WGS library preparation protocol Illumina TrueSeq DNA Nano and sequenced on Illumina NovaSeq 6000 platform with a mean autosomal depth greater than 30×. Variants were interpreted by a medical doctor specialized in the NGS sequencing data analysis and those classified as likely pathogenic or pathogenic according to the ACMG/AMP standards and guidelines were considered for reporting, while variants of uncertain clinical significance, were not considered. Likely pathogenic and pathogenic variants were further evaluated by the referring clinical geneticist and were considered and reported if they were classified as both a likely diagnostic finding and if they were compatible with the clinical presentation of referral.
Supplemental Data: Table 4 and section 3.1(Case description) Notes:
Variant: NM_000531.6: c.540+265G>A
ClinVarID: 449382
CAID: CA658658977
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #113, Male
Disease Assertion: UCD/OTCD
Family Info:
Case Presenting HPOs: Neonatal onset(HP:0003623), Hyperammonemia HP:0001987
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA from blood, cultured skin fibroblasts, liver from patients suspected for otc deficiency was used to amplify all 10 exons and exon/intron boundaries using primers listed in Table 1. The amplified DNA fragments were then screened by single-strand conformational polymorphism (SSCP) and the abnormally migrating DNA fragments were sequenced directly from PCR products (w/o subcloning) to identify the mutation. The amino acid residue substitution created by the mutation is examined using an alignment of 26 OTCase sequences from 23 species.
Supplemental Data: Table 4 Notes:
Variant: NM_000531.6: c.867+1G>A
ClinVarID: 97342
CAID: CA224813
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient MW
Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: NA Notes: mutation might cause exon 8 kipping durring splicing.
Variant: NM_000531.6: c.718-2A>G
ClinVarID: 97303
CAID: CA224761
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #5, male, German Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient
Case Presenting HPOs: infantile onset (HP:0003593), oritic aciduria(HP:0003218), hyperammonemia(HP:0001987), hyperglutaminemia(HP:0003217), low plasma citrulline (HP:0003572)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Notes: died at 11 months, was given medication and low protein diet and was asymptomatic during that time. Died from sever cerebral edema.
Variant: NM_000531.6: c.1005+1091C>G
ClinVarID: N/A
CAID: CA2695233334
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #1, male, turkish
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient
Case Presenting HPOs: infantile onset (HP:0003593), coma(HP:0001259), episodic hyperammonemia(HP:0001951), oriticaciduria(HP:0003218)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Notes: very mild movement disorder, the diagnosis was prenatal so measures were taken from birth,. 2 biopsies were performed and the revealed respectively a 30% and 50 % decrease on OTC activity.
Variant: NM_000531.6: c.867+1126A>G
ClinVarID: 571311
CAID: CA891843643
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: patient #2, male, Saudi Arabian
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease, Variant found in mother of the patient, Brother died of hyperammonemic crisis
Case Presenting HPOs: intellectual disability (HP:0001249), Neonatal onset (HP:0003623), seizure(HP:0001250), episodic hyperammonemia(HP:0001951), intellectual disability (HP:0001249)
Case HPO FreeText: hyperammonemic encephalopathy
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Liver tissues were used to extract RNA that was later used to synthesize cDNA. The products were compared to healthy controls in order to detect variants. gDNA, in order to determine the size of deletions in patient 3 and 4 , a set of intronic primers presumably flanking the deletions was used and specific primers allowed sequencing of exactly those critical regions(sequencing on paper). To estimate the relevance of the identified intronic variants in terms of their capability to induce splicing, we used a score developed by Shapiro and Senapathy. This splice score offers information about the usage of a certain splice site
Supplemental Data: TABLE 1, Patient was severely mentally retarded after the age of 2. Low OTC activity
Variant: NM_000531.6: c.540+265G>A(p.Gln180_Glu181insX4)
ClinVarID: 449382
CAID: CA658658977
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.663+2T>C
ClinVarID: 97285
CAID: CA224732
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient #ID, male Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.663+1G>A
ClinVarID: 97283
CAID: CA224730
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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Case: no patient #ID, female Disease Assertion: UCD/OTCD
Family Info: NA
Case Presenting HPOs: NA
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: NA
Supplemental Data: TABLE 1, Notes: NA
Variant: NM_000531.6: c.77+1G>T
ClinVarID: 97314
CAID: CA224774
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: no patient ID#, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: GDNA was extracted from blood or liver tissues using salt and ethanol precipitation. multiplex amplification for exons 1, 5 and 9 to screen male patients with large deletions. Band intensities were measured using a molecular dynamics phosphoimager.
Supplemental Data: TABLE 2
Variant: NM_000531.6: c.541-2A>G
ClinVarID: 97243
CAID: CA224675
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient from family 1, male
Disease Assertion: UCD/OTCD
Family Info: Family history of the disease
Case Presenting HPOs: coma(HP:0001259), lethargy(HP:0001254), hyperammonemia (HP:0001987), Neonatal Onset HP:0003623
Case HPO FreeText: Poor feeding, poor spirit
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: Genomic DNA was extracted using the QIAamp DNA Blood Midi Kit (Qiagen, Duesseldorf, Germany). Quality control assessment of DNA samples was performed using the NanoDrop 2000 ultra-microvolume nucleic acid and protein spectrophotometer (Thermo, Waltham, MA, USA). The purity of DNA was required to be between 1.8 and 2.0.
Supplemental Data: TABLE 1, admitted to neonatal department because of poor feeding, poor spirit, coma, and lethargy. The maternal grandmother of the proband in this family had given birth to 3 boys and 2 girls. Two boys died within 1 month after birth
Variant: NM_000531.6: c.867+1G>C
ClinVarID:N/A
CAID: CA412723994
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #220, male
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs: Neonatal onset (HP:0003623)
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: gDNA testing involves PCR amplification of all 10 exons and exon/intron boundaries followed by screening for mutations or sequencing of all fragments, For these patients, confirmation of the diagnosis requires enzymatic assays. No specifications about the test
Supplemental Data: Table 1
Variant: NM_000531.6: c.1005+2T>C
ClinVarID: 97090
CAID: CA224431
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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Case: patient #16, female, Japanese
Disease Assertion: UCD/OTCD
Family Info: N/A
Case Presenting HPOs:
Case HPO FreeText:
Case NOT HPOs:
Case NOT HPO Free Text:
Case Previous Testing: The severity of missense mutations was assessed using conservation and solvent accessible area of the replaced amino acid, calculated destabilization of mutant proteins and their SIFT and PolyPhen2 scores
Supplemental Data: Kido_et_al_2022_fgene_Data Sheet 2
Variant: NM_000531.6:c.77+1G>T
ClinVarID: 97314
CAID: CA224774
gnomAD:
Gene Name: OTC (ornithine transcarbamylase)
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drive.google.com drive.google.com
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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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drive.google.com drive.google.com
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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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drive.google.com drive.google.com
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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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drive.google.com drive.google.com
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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 #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 #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)
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- Jul 2019
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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An ancient germ cell-specific RNA-binding protein protects the germline from cryptic splice site poisoning
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URL
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- Oct 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Large-scale analysis of genome and transcriptome alterations in multiple tumors unveils novel cancer-relevant splicing networks
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- Sep 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Systematic identification and analysis of exonic splicing silencers
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A complex network of factors with overlapping affinities represses splicing through intronic elements
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link.springer.com link.springer.com
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Estimating the prevalence of functional exonic splice regulatory information
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www.biorxiv.org www.biorxiv.org
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A Large-Scale Binding and Functional Map of Human RNA Binding Proteins
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- Jun 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The significant other: splicing by the minor spliceosome
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journals.plos.org journals.plos.org
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Discovery and Analysis of Evolutionarily Conserved Intronic Splicing Regulatory Elements
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Influenza Viruses and mRNA Splicing: Doing More with Less
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febs.onlinelibrary.wiley.com febs.onlinelibrary.wiley.com
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Alternative splicing: regulation of HIV‐1 multiplication as a target for therapeutic action
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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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- Mar 2018
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media.nature.com media.nature.com
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Associating motifs with alternative splicing regulation
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A compendium of RNA-binding motifs for decoding gene regulation
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- Feb 2018
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journals.plos.org journals.plos.org
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De Novo Prediction of PTBP1 Binding and Splicing Targets Reveals Unexpected Features of Its RNA Recognition and Function
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- Jan 2018
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www.nature.com www.nature.com
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Spliced synthetic genes as internal controls in RNA sequencing experiments
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msb.embopress.org msb.embopress.org
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The landscape of human mutually exclusive splicing
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- Nov 2017
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hssonline.org hssonline.org
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RNA splicing in particular
This is a historical project on origins of a contested discovery
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- Oct 2017
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Salmon provides fast and bias-aware quantification of transcript expression
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Chromatin marks and ambient temperature-dependent flowering strike up a novel liaison
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- Sep 2017
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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RNA binding protein CPEB1 remodels host and viral RNA landscapes
remodel = alt splicing
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