Rieger syndrome: a clinical, molecular, and biochemical analysis

Cell Mol Life Sci. 2000 Oct;57(11):1652-66. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology
  • Amino Acid Sequence
  • Animals
  • DNA-Binding Proteins / metabolism
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology
  • Eye Abnormalities / physiopathology
  • Glaucoma / congenital
  • Glaucoma / genetics
  • Homeodomain Proteins / chemistry
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / metabolism
  • Humans
  • Molecular Sequence Data
  • Nuclear Proteins*
  • Paired Box Transcription Factors
  • Point Mutation / genetics
  • Prolactin / genetics
  • Promoter Regions, Genetic / genetics
  • Syndrome
  • Tooth Abnormalities / genetics*
  • Tooth Abnormalities / physiopathology
  • Transcription Factor Pit-1
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism
  • Transcriptional Activation

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • POU1F1 protein, human
  • Paired Box Transcription Factors
  • Transcription Factor Pit-1
  • Transcription Factors
  • homeobox protein PITX1
  • homeobox protein PITX3
  • homeobox protein PITX2
  • Prolactin