Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma.

ABSTRACT:

Purpose

Primary congenital glaucoma (PCG) is an autosomal recessive form of glaucoma that manifests within the first year of life and if left untreated, leads to irreversible blindness. Cytochrome P450 1B1 (CYP1B1) is the major gene known to be associated with PCG. The role of the CYP1B1 gene in disease pathogenesis and the relatively low detection rate of CYP1B1 mutations in some populations, especially Asians, remain unexplained. We hypothesized that altered gene dosage of CYP1B1 or anterior segmental dysgenesis causative genes may be involved in the pathogenesis of PCG.

Methods

We performed whole genome exon-focused array comparative genome hybridization (aCGH) to identify copy number variation (CNV) in 20 Korean PCG patients and their parents.

Results

We identifie

SUBMITTER: Lee JH 

PROVIDER: S-EPMC3250374 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature