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