A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

ABSTRACT:

Purpose

To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract.

Methods

A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis.

Results

All affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved argi

SUBMITTER: Wang KJ 

PROVIDER: S-EPMC3021572 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature