Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
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Date
2013-08
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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.139G>A (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 (E1) 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.
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Keywords
Congenital nuclear cataract, GJA3 gene, Gap junction, p.D47N, Mutation, Exome sequencing
Citation
Guo Yi, Yuan Lamei, Yi Junhui, Xiao Jingjing, Xu Hongbo, Lv Hongwei, Xiong Wei, Zheng Wen, Guan Liping, Zhang Jianguo, Xiang Hong, Qi Yong, Deng Hao. Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing. Indian Journal of Biochemistry & Biophysics. 2013 Aug; 50(4): 253-258.