ABCMdb

PMID: 22863181

Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB
Molecular diagnosis of putative Stargardt disease probands by exome sequencing.
BMC Med Genet. 2012 Aug 3;13:67., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCA4 p.Asn965Ser ABCA4 p.Arg2038Trp Table 1 Clinical Information and Genetic Findings of Putative Stargardt Disease Cases\ SampleAge Sex Acuity OD Acuity OS Clinical Notes ERG Findings Color vision ABCA4 variants PRPH2 variants Other variants STGD-01 19 Male 20/400 20/160 Peripapillary sparing, discrete flecks; nummular atrophy Normal rod Abnormal cone No testing p.N965S p.R2038W . Login to comment 64 ABCA4 p.Thr236* p.T236X . Login to comment 65 ABCA4 p.Val989Ala STGD-06 34 Female 20/200 20/200 Classic Stargardt Normal rod Abnormal cone No testing p.V989A . Login to comment 75 ABCA4 p.Asn965Ser ABCA4 p.Arg2038Trp Table 1 Clinical Information and Genetic Findings of Putative Stargardt Disease Cases Sample Age Sex Acuity OD Acuity OS Clinical Notes ERG Findings Color vision ABCA4 variants PRPH2 variants Other variants STGD-01 19 Male 20/400 20/160 Peripapillary sparing, discrete flecks; nummular atrophy Normal rod Abnormal cone No testing p.N965S p.R2038W . Login to comment 77 ABCA4 p.Gln636* STGD-02 15 Female 20/160 20/100 Few yellowish Flecks without autofluorescence Normal rod Normal cone Abnormal p.Q636X p.G1961E* . Login to comment 84 ABCA4 p.Thr236* p.T236X . Login to comment 85 ABCA4 p.Val989Ala STGD-06 34 Female 20/200 20/200 Classic Stargardt Normal rod Abnormal cone No testing p.V989A . Login to comment 101 ABCA4 p.Asn965Ser ABCA4 p.Arg2038Trp Exome sequencing identified two missense variants (p.N965S and p.R2038W) previously reported as disease-causing in STGD [19]. Login to comment 104 ABCA4 p.Gly1961Glu The p.G1961E missense variant is a known STGD mutation [19]. Login to comment 105 ABCA4 p.Asn965Ser ABCA4 p.Arg2038Trp Exome sequencing identified two missense variants (p.N965S and p.R2038W) previously reported as disease-causing in STGD [19]. Login to comment 106 ABCA4 p.Gln636* The second variant p.Q636X introduces a premature termination codon and is thus considered very likely deleterious. Login to comment 108 ABCA4 p.Gly1961Glu The p.G1961E missense variant is a known STGD mutation [19]. Login to comment 121 ABCA4 p.Thr236* A single rare nonsense variant (p.T236X) in PRPH2 was identified in this participant. Login to comment 125 ABCA4 p.Thr236* A single rare nonsense variant (p.T236X) in PRPH2 was identified in this participant. Login to comment 126 ABCA4 p.Val989Ala Exome sequencing identified a single, previously described rare missense disease-causing variant in ABCA4 (p.V989A). Login to comment 130 ABCA4 p.Val989Ala Exome sequencing identified a single, previously described rare missense disease-causing variant in ABCA4 (p.V989A). Login to comment 155 ABCA4 p.Gln636* Of the five total disease-causing ABCA4 alleles found by WES, four (all except p.Q636X) have previously been described and are genotyped by the current ABCR array available from Asper Biotech, supporting the use of the genotyping array as a first-pass screening tool due to its low cost. Login to comment