Journal
CELLULAR AND MOLECULAR LIFE SCIENCES
Volume 57, Issue 11, Pages 1652-1666Publisher
BIRKHAUSER VERLAG AG
DOI: 10.1007/PL00000647
Keywords
Rieger syndrome; PITX2; homeodomain; human disorder
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Funding
- NIDCR NIH HHS [1 RO1 DE13941-01] Funding Source: Medline
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Rieger syndrome (RIEG I; MIM 180500) is an autosomal dominant disorder of morphogenesis. It is a phenotypically heterogeneous disorder characterized by malformations of the eyes, teeth, and umbilicus. RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. Recently, mutations in the homeodomain transcription factor, PITX2, have been shown to be associated with Rieger syndrome. This review discusses the clinical manifestations of Rieger syndrome and how they correlate with the current molecular and biochemical studies on this human disorder.
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