A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

ABSTRACT:

Purpose

This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.

Methods

Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white blood cells. Initially, a genome-wide scan was performed with genomic DNAs of family PKCC025 followed by exclusion analysis of our familial cohort of congenital cataracts. Protein-coding exons of CRYBB1, CRYBB2, CRYBB3, and CRYBA4 were sequenced bidirectionally. A haplotype was constructed with SNPs flanking the causal mutation for affected individuals in all four families

SUBMITTER: Jiao X 

PROVIDER: S-EPMC4915718 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature