NDLI: Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.

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Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.

Content Provider	Europe PMC
Author	Weisschuh, Nicole Aisenbrey, Sabine Wissinger, Bernd Riess, Angelika
Copyright Year	2012
Abstract	PurposeTo identify the genetic defect in a four-generation Croatian family presenting with autosomal dominant cataract.MethodsGenome-wide linkage analysis with 250K single nucleotide polymorphism (SNP) arrays was performed using DNA from one unaffected and seven affected individuals. Mutation screening of candidate genes was performed by bidirectional Sanger sequencing.ResultsEvidence for linkage was observed for eight genomic regions. Among these was a locus on chromosome 22 which encompasses the β-crystallin gene cluster. This cluster includes four genes, namely beta-crystallin B1 (CRYBB1), beta-crystallin B2 (CRYBB2), beta-crystallin B3 (CRYBB3), and beta-crystallin A4 (CRYBA4). A novel sequence variant was found in the CRYBB2 gene (p.Arg188His). This variant cosegregated with the disease phenotype in all affected individuals but was not present in the unaffected family members and 100 healthy control subjects.ConclusionsWe report a novel missense mutation, p.Arg188His, in CRYBB2 associated with congenital cataract in a family of Croatian origin. This variant is the most COOH-terminal missense mutation in CRYBB2 that has been identified so far.
Journal	Molecular Vision
Volume Number	18
PubMed Central reference number	PMC3272051
PubMed reference number	22312185
e-ISSN	10900535
Language	English
Publisher	Molecular Vision
Publisher Date	2012-01-21
Access Restriction	Open
Rights License	This is an open-access article distributed under the terms of theCreative Commons Attribution License, which permits unrestricted use,distribution, and reproduction in any medium, provided the originalwork is properly cited. Copyright © 2012 Molecular Vision.
Content Type	Text
Resource Type	Article
Subject	Ophthalmology

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