Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.

ABSTRACT:

Purpose

To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital posterior subcapsular cataracts.

Methods

Clinical data from patients in the family were recorded by slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of the pedigree members. Mutation screening was performed in the candidate gene by bidirectional sequencing of the amplified products. The mutation was verified by restriction fragment length polymorphism (RFLP) analysis.

Results

The congenital cataract phenotype of the pedigree was identified as posterior subcapsular by slit-lamp photography. Sequencing of the candidate genes detected a heterozygous c.5C→T change in the coding region of the βB2-crystallin gene (CRYBB2

SUBMITTER: Yao K 

PROVIDER: S-EPMC3021577 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature