Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

ABSTRACT:

Purpose

To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma.

Methods

Genomic DNA was prepared from 32 unrelated patients with microphthalmia (nine probands) and uveal coloboma (23 probands). Cycle sequencing was used to detect sequence variations in ten genes, including BMP4, VSX2, CRYBA4, GDF6, OTX2, RAX, SIX3, SIX6, SOX2, and LRP6. Variations were further evaluated in 96 unrelated controls by using restriction fragment length polymorphism (RFLP) or heteroduplex-single strand conformation polymorphism (HA-SSCP) analysis.

Results

In the ten genes, a novel c.751C>T (p.H251Y) in BMP4 was detected in a patient with bilateral microphthalmia and unilateral cataract. The c.751C>T variation is also present in his healthy brother (and

SUBMITTER: Zhang X 

PROVIDER: S-EPMC2802294 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature