A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

ABSTRACT:

Purpose

To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea.

Methods

Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA3, and GJA8, was performed by bidirectional sequencing of the amplified products.

Results

Affected individuals had a jellyfish-like cataract in association with microcornea. Sequencing of GJA8 (connexin 50) showed a novel, heterozygous c.134G-->C change that resulted in the substitution of a highly conserved tryptophan by serine (p.W45S). This sequence change segregated completely with the disease phenotype and was not observed in 108 ethnically matched controls (216 chromoso

SUBMITTER: Vanita V 

PROVIDER: S-EPMC2255026 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature