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

Molecular syndromology

Rashmi Patel¹ 

关键词: Cataract;    Crystallin;    India;    Lens;    Mutation;   

DOI  :  10.1159/000471992

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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 (p.R119H), were also observed in the CRYAA gene. The disease-causing variants mildly affect the stability, functionality, and localization of crystallin, and, with progressing age, a small change in the microenvironment of the crystallin lens occurs. This change in combination with a mutation may significantly alter the functionality of the crystallin protein, leading to age-related cataract.

【 授权许可】

CC BY