A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

ABSTRACT:

Purpose

To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Methods

Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain reaction (PCR) analyses and sequencing. Structural models of the wild-type and mutant alphaB-crystallin were generated and analyzed by SWISS-MODEL.

Results

Mutation screening identified only one heterozygous G-->A transition at nucleotide 32 in the first exon of alphaB-crystallin (CRYAB), resulting in an amino acid change from arginine to histidine at codon 11 (R11H). This mutati

SUBMITTER: Chen Q 

PROVIDER: S-EPMC2709425 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature