ABCMdb

PMID: 24444108

Ortube MC, Strom SP, Nelson SF, Nusinowitz S, Martinez A, Gorin MB
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
BMC Med Genet. 2014 Jan 20;15:11. doi: 10.1186/1471-2350-15-11., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCA4 p.Arg602Trp CASE REPORT Open Access Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy Maria Carolina Ortube1* , Samuel P Strom2,3 , Stanley F Nelson2,3 , Steven Nusinowitz1 , Ariadna Martinez1 and Michael B Gorin1,3 Abstract Background: A pediatric patient presented with rapidly progressive vision loss, nyctalopia and retinal dystrophy. Login to comment 1 ABCA4 p.Arg602Trp This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. Login to comment 15 ABCA4 p.Arg602Trp DNA analysis by whole exomic sequencing revealed homozygosity of p.Arg602Trp in the ABCA4 gene. Login to comment 24 ABCA4 p.Arg602Trp After 2 years of ophthalmic follow-up we performed exomic sequencing and identified a likely pathogenic homozygous variant in ABCA4 (p.Arg602Trp). Login to comment 26 ABCA4 p.Arg602Trp Here we provide a comprehensive phenotypic characterization of a young patient homozygous for this highly pathogenic p.Arg602Trp variant. Login to comment 96 ABCA4 p.Arg602Trp Whole exome sequencing identified a homozygous ABCA4 missense variant (p.Arg602Trp) that has been identified as a Stargardt Disease mutation [7,8]. Login to comment 102 ABCA4 p.Arg602Trp Whole exomic sequencing (WES) identified a total of 14 homozygous rare coding variants, including p.Arg602Trp in ABCA4 (Additional file 1). Login to comment 112 ABCA4 p.Arg602Trp Compound heterozygous cases that included the p.Arg602Trp mutation of the ABCA4 gene have been described in early onset, autosomal recessive retinitis pigmentosa families [7,8]. Login to comment 165 ABCA4 p.Arg602Trp Grants Foundation Fighting Blindness Harold and Pauline Price Chair Research to Prevent Blindness Shorter version: Homozygous ABCA4 p.Arg602Trp missense mutation. Login to comment 225 ABCA4 p.Arg602Trp Arch Ophthalmol 2012, 130(2):171-179. doi:10.1186/1471-2350-15-11 Cite this article as: Ortube et al.: Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. Login to comment