A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family.

ABSTRACT:

Purpose

To identify the pathogenic gene mutation in a Chinese family with autosomal dominant congenital nuclear cataract.

Methods

After obtaining informed consent, detailed ophthalmic examinations were performed and genomic DNAs were obtained from eleven family members in a three-generation Chinese family with five affected. All exons of candidate genes associated with congenital nuclear cataract were amplified by polymerase chain reaction (PCR) and the PCR products were sequenced in both directions. The hydrophobic property of the mutant protein was analyzed with bioinformatics program ProtScale. The structure homology modeling of the mutant protein was based on Swiss-Model Serve, and its structure was displayed and compared with native γD-crystallin (CRYGD) using the RasMo

SUBMITTER: Wang L 

PROVIDER: S-EPMC3081795 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature