A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.

ABSTRACT:

Purpose

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by extraocular anomalies and developmental defects of the anterior segment. PITX2 (paired-like homeodomain transcription factor 2) is considered the major causative gene. In this study, we characterized the molecular defect in PITX2 in a Chinese family with ARS.

Methods

Two generations of the family with ARS were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of all coding exons of PITX2 were performed. Exon 5 (region 1) was also sequenced in 100 healthy controls unrelated to the family for comparison.

Results

A novel PITX2 mutation, c.840G>T, was identified in all affected members of

SUBMITTER: Li D 

PROVIDER: S-EPMC2592999 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature