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

Yi Guo, Lamei Yuan, Junhui Yi, Jingjing Xiao, Hongbo Xu, Hongwei Lv, Wei Xiong, Wen Zheng, Liping Guan, Jianguo Zhang, Hong Xiang, Yong Qi (+1 others)
2013 Indian Journal of Biochemistry & Biophysics  
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.139G>A (p.D47N) in the gap junction protein-alpha 3 gene (GJA3) was identified.
more » ... he 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.
pmid:24772942 fatcat:vxtieq5ljnavddsptorrmdotcm