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

Purpose: To determine the underlying genetic cause of Axenfeld-Rieger syndrome (ARS) in a three-generation family.

Introduction: ARS is a multisystem, autosomal dominant disorder characterized by specific ocular and non-ocular anomalies sometimes caused by mutations in the transcription factor gene, PITX2.

Methods: The three coding exons of the PITX2 gene, i.