Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.

ABSTRACT:

Purpose

To identify a novel disease-causing mutation of the GJA3 (gap junction alpha-3 protein) gene in a Chinese family with autosomal dominant congenital cataract (ADCC).

Methods

One family was examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genetic linkage analysis was performed on the known genetic loci for ADCC with a panel of polymorphic markers, and then mutations were screened by direct sequencing. Whenever substitutions were identified in a patient, high-resolution melt curve analysis (HRM) was performed on all available family members and 100 normal controls. Bioinformatics analysis was undergone by the Garnier-Osguthorpe-Robson (GOR) and the PolyPhen (polymorphism phenotyping) programs

SUBMITTER: Zhang X 

PROVIDER: S-EPMC3272055 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature