Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.

ABSTRACT:

Purpose

Paired box gene 6 (PAX6) heterozygous mutations are well known to cause congenital non-syndromic aniridia. These mutations produce primarily protein truncations and have been identified in approximately 40%-80% of all aniridia cases worldwide. In Mexico, there is only one previous report describing three intragenic deletions in five cases. In this study, we further analyze PAX6 variants in a group of Mexican aniridia patients and describe associated ocular findings.

Methods

We evaluated 30 nonrelated probands from two referral hospitals. Mutations were detected by single-strand conformation polymorphism (SSCP) and direct sequencing, and novel missense mutations and intronic changes were analyzed by in silico analysis. One intronic variation (IVS2+9G>A), which in sili

SUBMITTER: Villarroel CE 

PROVIDER: S-EPMC2530489 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature