A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred.

CONCLUSION: This study identified a novel CRYGC mutation, E128* to cause autosomal dominant congenital nuclear cataract in a large south Indian family. Our study provides a new insight onto how the mutation might affect the γC-crystallin structure and function besides emphasizing the need for genetic diagnosis toward vision restoration. PMID: 32811259 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/32811259?dopt=Abstract

Source: Ophthalmic Genetics - August 20, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research