A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea.

ABSTRACT:

Purpose

To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea.

Methods

We investigated a four-generation Chinese family with six members affected with nuclear cataracts and microcornea. The family resides in a relatively isolated region of northern China. Genomic DNA was isolated from blood leucocytes, genotyping was performed using more than 100 microsatellite markers for the known cataract candidate gene loci, and LOD scores were calculated using the LINKAGE programs. Mutations were detected by DNA sequence analysis of the candidate genes.

Results

Evidence for linkage was detected at marker D2S325 (LOD score [Z]=2.29, recombination fraction [theta]=0.0), which close

SUBMITTER: Zhang L 

PROVIDER: S-EPMC2635849 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature