Mutation spectrum of PAX6 in Chinese patients with aniridia.

ABSTRACT:

Purpose

To identify mutations in the paired box 6 (PAX6) gene of 33 probands with aniridia and to reveal the mutational spectrum in the Chinese population.

Methods

Unrelated probands with aniridia from 27 newly selected families and six previously analyzed families participated in this study. The coding regions of PAX6 in the 27 new families were analyzed using cycle sequencing. Families that lacked detectable variations based on sequencing (14 new and six previously analyzed) were further analyzed using multiplex ligation-dependent probe amplification (MLPA).

Results

Fifteen mutations were identified in 16 of the 33 families: c.[65_94del30; 99_105dup7], c.101_102insA, c.177delG, c.238_239insGCGA, c.1033-42_1033-26del17insG, c.1A>G, c.120C>A, c.718C>T, c.949C>T, c.106

SUBMITTER: Zhang X 

PROVIDER: S-EPMC3156780 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature