Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

ABSTRACT:

Purpose

This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.

Methods

Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan was completed with short tandem repeat (STR) markers, and the logarithm of odds (LOD) scores were calculated. Protein coding exons of CRYAB were sequenced, bi-directionally. Evolutionary conservation was investigated by aligning CRYAB orthologues, and the expression of Cryab in embryonic and post

SUBMITTER: Jiao X 

PROVIDER: S-EPMC4581838 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature