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Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing

Authors :
Yi, Guo
Lamei, Yuan
Junhui, Yi
Jingjing, Xiao
Hongbo, Xu
Hongwei, Lv
Wei, Xiong
Wen, Zheng
Liping, Guan
Jianguo, Zhang
Hong, Xiang
Yong, Qi
Hao, Deng
Source :
Indian journal of biochemistrybiophysics. 50(4)
Publication Year :
2014

Abstract

Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and a missense variant c.139GA (p.D47N) in the gap junction protein-alpha 3 gene (GJA3) was identified. The variant co-segregated with patients of the family and was not observed in unaffected family members or normal controls. The above findings indicated that the variant was a pathogenic mutation. The mutation p.D47N was found in the first extracellular loop (El) domain of GJA3 protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in cataract, a disorder with high genetic heterogeneity. Our findings may also provide new insights into the cause and diagnosis of congenital nuclear cataract and have implications for genetic counseling.

Details

ISSN :
03011208
Volume :
50
Issue :
4
Database :
OpenAIRE
Journal :
Indian journal of biochemistrybiophysics
Accession number :
edsair.pmid..........fbc0dc873d17ca8a27a5fa45d8a396ce