Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.

ABSTRACT:

Purpose

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

Methods

After obtained informed consent, detailed ophthalmic examinations were performed, genomic DNAs were obtained from eighteen family members in a four-generation Chinese family with five affected. All exons of candidate genes were amplified by polymerase chain reaction (PCR) and were sequenced performed by bidirectional sequencing. The stability of mutation was predicted with Prediction of Protein Mutant Stability changes (PoPMuSiC). The structure homology modeling of the mutant protein was based on Swiss-Model Serve, and its structure was displayed and compared with human connexin26 using the RasMol software.

Results

By sequencing the encoding

SUBMITTER: Wang L 

PROVIDER: S-EPMC3171490 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature