A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

ABSTRACT:

Purpose

To detect the underlying genetic defect in a family with three members in two generations affected with bilateral congenital cataract.

Methods

Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin (CRYBA1), betaB2-crystallin (CRYBB2), gammaA-gammaD-crystallins (CRYGA, CRYGB, CRYGC, and CRYGD), connexin-46 (GJA3), and connexin-50 (GJA8), was performed by bidirectional sequencing of the amplified products.

Results

Affected individuals had "balloon-like" cataract with prominent Y-sutural opacities. Sequencing of the candidate genes showed a heterozygous c.262C>A change in the gene for connexin 50 (GJA8), which is localized at 1q21, that resulted in the replacement of a high

SUBMITTER: Vanita V 

PROVIDER: S-EPMC2435161 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature