A novel PITX2 mutation causing iris hypoplasia

Abstract

Iris hypoplasia (IH) is rare autosomal dominant disorder characterized by a poorly developed iris stroma and malformations of the eyes and umbilicus. This disorder is caused by mutation of the paired-like homeodomain 2 (PITX2) gene. Here, we describe a novel PITX2 mutation (c.205C4T) in an IH family presenting with very mild eye features but with tooth agenesis as the most obvious clinical feature.