Rieger syndrome: a clinical, molecular, and biochemical analysis
- 1 October 2000
- journal article
- review article
- Published by Springer Nature in Cellular and Molecular Life Sciences
- Vol. 57 (11) , 1652-1666
- https://doi.org/10.1007/pl00000647
Abstract
Rieger syndrome (RIEG 1; 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.Keywords
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