A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.

ABSTRACT:

Purpose

Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family.

Methods

A detailed family history and clinical data from patients were collected by ophthalmologic examination, including visual acuity, slit-lamp examination, tonometer, keratometry, corneal topography, optical coherence tomography, and ultrasonic A/B scan. All exons and flanking intronic sequences of the paired box 6 (PAX6) gene were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structure and function of the mutant PAX6 were analyzed by bioinformatics analysis.

Results

All the six p

SUBMITTER: Jin C 

PROVIDER: S-EPMC3291521 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature