A novel PITX2 mutation causing iris hypoplasia.
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ABSTRACT:
SUBMITTER: Kimura M
PROVIDER: S-EPMC4785520 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
A novel PITX2 mutation causing iris hypoplasia.
Kimura Masashi M Tokita Yoshihito Y Machida Junichiro J Shibata Akio A Tatematsu Tadashi T Tsurusaki Yoshinori Y Miyake Noriko N Saitsu Hirotomo H Miyachi Hitoshi H Shimozato Kazuo K Matsumoto Naomichi N Nakashima Mitsuko M
Human genome variation 20140731
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. ...[more]
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