A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.

ABSTRACT:

Purpose

To identify novel mutation in the PAX6 (paired box gene 6) gene and characterize new clinical features of severe ocular malformation in a Chinese patient with Peters' anomaly.

Methods

A 10-month-old male infant, who presented with corneal opacity and nystagmus, was referred to our pediatric clinic and underwent a complete general physical and ophthalmological examination, including anterior segment and retinal evaluation with slit-lamp microscopy, an A/B ultrasonic scan, and electroretinography (ERG). Genomic DNA was prepared from venous leukocytes. The coding regions and the adjacent intronic sequence of PAX6 were amplified by a polymerase chain reaction, and subsequently analyzed by direct sequencing. The variation detected was further evaluated in 100 controls usi

SUBMITTER: Jia X 

PROVIDER: S-EPMC2855731 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature