Thirty-Three Truncated and 98 Amino Acid–Changing Variants in the ABCA4 Gene
This variant was found on one allele of a Stargardt patient, but no additional details are provided about the patient or the other allele. A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used to evaluate the entire exonic and flanking intron sequence of the ABCA4 gene
Thirty-Three Truncated and 98 Amino Acid–Changing Variants in the ABCA4 Gene
This variant was found on one allele of a Stargardt patient, but no additional details are provided about the patient or the other allele. A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used to evaluate the entire exonic and flanking intron sequence of the ABCA4 gene
6Mc.4720G>Tp.Glu1574*not detected 20/15020/2006/38/32
Case#: Patient #16, male, 6yo at onset, Brazilian
DiseaseAssertion: stargardt
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText: type II (an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance). visual acuity: OD=20/150, OS=20/200
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: n/a
Variant: c.4720G>T p.(Glu1574*), no second variant. NGS and conclusive molecular testing regarding other Stargardt genes were excluded
ClinVar: 1460063
CAID: CA341283936
SupplementalData: n/a
P023 ABCA4 20 c.3035_3037delACA p.Asn1012Ile ATP-binding domain novel deletion – DCABCA4 24 c.3547G>T p.Gly1183Cys – reported – – –ABCA4 46 c.6289C>T p.Pro2097Ser ATP-binding domain novel missense probablydamagingDC
Case#: Patient #P023, Korean
DiseaseAssertion: stargardt
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText: no individual phenotype information, group only
CaseNotHPOs:
CaseNotHPOFreeText:
PreviouslyPublished: n/a
Variant: exome sequencing: c.6289C>T p.Pro2097Ser; c.3547G>T p.Gly1183Cys; c.3035_3037delACA p.Asn1012Ile
ClinVar: CA341277622
CAID: 2202780
SupplementalData: n/a
In this study, we summarized the phenotypic and genotypic characteristics of 129 Chinese patients with ABCA4-RD.
paper not publicly available, but is said to contain this variant based on LOVD entry. requested from library.
Update: Received paper from library. 1 proband in Figure 1 has this variant, but cannot access the supplementary info to see the individual phenotype information. Affected maternal aunt with homozygous c.4605_4606ins-non-segregation.
Supplementary TableS10
This variant is listed for Stargardt DNAID#071103 in trans with c.1927G>A p.(Val643Met). No phenotype information provided.
STGD in 48 patients (55%) was explained by recessive ABCA4 mutations (supplemental table S2). Only 22 patients could be solved using previously known STGD causing mutations. However, we identified 35 novel mutations in ABCA4 contributing to the diagnosis of 25 STGD patients. This contained 10 novel mutations leading to amino acid substitutions already known to cause disease and mutations known to cause diseases other than STGD. In addition, we identified 13 novel nonsense mutations. The remaining 12 novel mutations are well justified, and novel mutations were either completely absent or extremely rare in controls.
Case#: Patient #133, Chinese
DiseaseAssertion: Stargardt
FamilyInfo: n/a
CasePresentingHPOs: n/a "Diagnosis of STGD was based on the clinical manifestations" is all that is stated
CaseHPOFreeText: n/a
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
PreviouslyPublished: n/a
Variant: c.6289 C>T p.(P2097S); c.4605_4606insT p.(V1535fs)
ClinVar: 2202780
CAID: CA341277622
SupplementalData: info found in table S2
We identified 44 novel sequence changes (Table 3). Of these changes, 30 were potentially pathogenic and 14were classified as potentially neutral polymorphisms or changes of unknown significance.
This variant is in table 3 as a "potentially neutral polymorphism or change of unknown significance" but it is unclear which patient this is associated with, what their phenotype is, what their genotype is
MD-1001 STGD1 44 c.6089G>A p.(Arg2030Gln) 47 c.6410G>A p.(Cys2137Tyr) - - - - - - - This study
This variant is found in compound heterozygosity with c.6089G>A p.(Arg2030Gln) in family MD-1001 in this study. No phenotype information provided. Not eligible for PP4 due to age of onset not being provided.
Peripheral venous blood was obtained from 24 clinically diagnosed Korean STGD patients, followed by extraction of genomic DNAs. Using exome sequencing we investigated gene mutations for the adenosine triphosphate-binding cassette, subfamily A, member 4 (ABCA4) elongation of very-long-chain fatty acids 4 (ELOVL4), and prominin 1 (PROM1), and confirmed gene mutations by the direct sequencing of polymerase chain reaction products.
Paper is said to contain this variant based on LOVD entry, but this paper is not publicly available. Requested from library. Annotation on stable PDF. No individual phenotype provided
Supplementary File pnas.1909378117.sd01.xlsx (5.4MB, xlsx)
This variant was listed in a supplemental table under "autosomal recessive variants" but there are no patient IDs to be able to know if the person who had this variant had another variant. There was also no phenotype information provided
Supplement 4Click here for additional data file.(480K, pdf)Supplement 5Click here for additional data file.(460K, pdf)
This variant was found in 92 of the 670 alleles in this cohort (Supplement 4). Supplement 5 has the individuals listed with their genotypes, but only mentions variants that were classified as VUS/LP/P, so it is unknown which individuals specifically had this variant or which other variants they also had.
Supplementary data. bjophthalmol-2018-312064supp004.pdf
This variant is found on pg 21 in proband 13047. Compound heterozygous for c.5882G>A p.Gly1961Glu. Said to have Stargardt based on the following criteria: "(1) patients (at least 6 years old) with at least two ABCA4 variants or one ABCA4 variant associated with a typical STGD1 phenotype and (2) presence of a well-defined atrophic lesion with/without flecks at the most recent visit of at least 300 µm in diameter (the total area of all lesions <12 mm2)." No additional details provided
Supplementary MaterialsSupplementary information41598_2017_11211_MOESM1_ESM.xlsx (63K)
This paper is flagged in Mastermind as containing this variant. The rs12720449 ID is mentioned in the supplemental info under the controls tab, but the specific variant is not listed
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease A New Epidemiologic Picture
PMID: 26986123 Gene: von Willebrand factor HGNCID: 12726 Note: reported for group analysis with no associated probands/patient
Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses
This article is not publicly available. I was able to obtain institutional access to the full text, but am annotating the PubMed abstract so the details are available to everyone.
PMID:30903511
Gene: IDUA (and others)
Disease: MPS1 (and others)
Inheritance: Autosomal recessive