A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.

Content Provider	Europe PMC
Author	Yang, Guoxing Zhai, Xinling Zhao, Jialiang
Copyright Year	2011
Abstract	PurposeCongenital cataracts are a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic mutation and the molecular phenotype responsible for the presence of an autosomal dominant congenital nuclear cataract disease in a Chinese family.MethodsPatients were given a physical examination and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers, and a logarithm of odds (LOD) score was calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing.ResultsLinkage to the crystallin beta A1 (CRYBA1) locus was identified. DNA sequencing of the gene revealed a c.279–281delGAG mutation in exon 4, which resulted in a glycine residue deletion at position 91 (ΔG91). This mutation was identified in all of the affected individuals but was not found in the 100 control chromosomes.ConclusionsOur results identify that the c.279–281delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear cataract disease in this Chinese family.
Journal	Molecular Vision
Volume Number	17
PubMed Central reference number	PMC3115749
PubMed reference number	21686330
e-ISSN	10900535
Language	English
Publisher	Molecular Vision
Publisher Date	2011-06-09
Access Restriction	Open
Rights License	This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © 2011 Molecular Vision.
Content Type	Text
Resource Type	Article
Subject	Ophthalmology