Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.

ABSTRACT:

Purpose

Haplo-insufficiency at the paired box gene 6 (PAX6) locus causes aniridia,which is characterized by iris hypoplasia and other anterior and posterior eye defects leading to poor vision. This study aimed to identify novel PAX6 mutations that lead to familial and sporadic aniridia in northeastern China.

Methods

Two aniridia patients from a family and a sporadic patient underwent full ophthalmologic examinations. Genomic DNA was isolated from the affected individuals, 5 noncarriers in the family and 100 healthy normal controls. The coding regions and the adjacent intronic sequence of PAX6 were amplified by polymerase chain reaction (PCR) and direct bidirectional sequencing.

Results

A nonsense mutation in exon 9 (c.718C>T) was identified in the patients but not in

SUBMITTER: Kang Y 

PROVIDER: S-EPMC3398500 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature