Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.

ABSTRACT: Cataract is the most prevalent leading cause of visual impairment and blindness worldwide. In comparison to congenital cataract, which affects relatively few individuals, age-related cataract is responsible for slightly half of all cases of blindness worldwide. Although significant work has been done, the genetic aspect of age-related cataract is still in its infancy. The current study was performed to analyze the mutations and polymorphisms in the CRYAA, CRYAB, CRYBB1, and GJA8 genes in 40 unrelated age-related cataract patients. Mutational analysis of the above-mentioned genes in 40 cataract cases revealed 14 different substitutions of which 8 variants were novel and 6 were reported SNPs. Two disease-causing mutations, g.44590631G>A (p.R65Q) and g.44592224G>A

SUBMITTER: Patel R 

PROVIDER: S-EPMC5498953 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature