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.205C>T) in an IH family presenting with very mild eye features but with tooth agenesis as the most obvious clinical feature.

SUBMITTER: Kimura M 

PROVIDER: S-EPMC4785520 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature