A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

ABSTRACT:

Purpose

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

Methods

Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant gammaC-crystallin were generated and analyzed by SWISS-MODEL.

Results

Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in th

SUBMITTER: Yao K 

PROVIDER: S-EPMC2447816 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature