A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

ABSTRACT:

Purpose

To undertake mutation screening in the connexin 46 (GJA3) gene in seven congenital cataract families of Indian origin.

Methods

Seven Indian families with congenital cataract were analyzed by detailed family history and clinical evaluation. Each family had two to five affected members. Mutation screening was carried out in the candidate gene, connexin 46 (GJA3), using bidirectional sequencing of amplified products. Segregation of the observed change with the disease phenotype was further tested by restriction fragment length polymorphism (RFLP).

Results

Sequencing of the coding region of GJA3 showed the presence of a novel, heterozygous C260T change in one family (CC-472) who had two affected members. The cataract phenotype gave the appearance like a "pearl box

SUBMITTER: Guleria K 

PROVIDER: S-EPMC2768755 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature