A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Content Provider	Europe PMC
Author	Yang, Guoxing Xing, Baogang Liu, Guangcai Lu, Xiangqing Jia, Xingang Wang, Xiuli Yu, Hongyan Fu, Yanjiang Zhao, Jialiang
Copyright Year	2011
Abstract	PurposeCongenital cataract is both a clinically and genetically heterogeneous lens disorder. The purpose of this study is to map and identify the mutation in an autosomal dominant congenital nuclear cataract in a Chinese family.MethodsPatients were given physical examinations and their blood samples were collected for DNA extraction. Genotyping was performed by microsatellite markers and logarithm of odds (LOD) scores were calculated using the LINKAGE programs. Mutation detection was performed by direct sequencing.ResultsLinkage to the gap-junction protein α3 (GJA3) locus was verified. Sequencing of GJA3 revealed a G>A transition at nucleotide position c.139, which causes an Asn substitution for the conservative Asp at codon 47 (P.D47N).This mutation is identified in all affected individuals but is not found in 100 control chromosomes.ConclusionsOur results identify that the mutation (D47N) in GJA3 is responsible for this Chinese pedigree. It is further identified that GJA3 is responsible for congenital cataract. In our study, the novel mutation broadens the spectrum of GJA3 mutations.
Journal	Molecular Vision
Volume Number	17
PubMed Central reference number	PMC3086624
PubMed reference number	21552498
e-ISSN	10900535
Language	English
Publisher	Molecular Vision
Publisher Date	2011-04-27
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