Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract.

ABSTRACT:

Background

GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract.

Objective

To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance.

Methods

Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated controls.

Results

A single base insertion leading to frameshift at codon 203 of connexin 50 was found to co-segregate with disease in the family.

Conclusions

These results confirm involvement of GJA8 in autosomal recessive cataract.

SUBMITTER: Ponnam SP 

PROVIDER: S-EPMC2598012 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature