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Rieger syndrome: a clinical, molecular, and biochemical analysis
Journal article   Open access   Peer reviewed

Rieger syndrome: a clinical, molecular, and biochemical analysis

B A Amendt, E V Semina and W L Alward
Cellular and molecular life sciences : CMLS, Vol.57(11), pp.1652-1666
10/2000
DOI: 10.1007/PL00000647
PMID: 11092457
url
https://www.ncbi.nlm.nih.gov/pmc/articles/11146825View
Open Access

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.
 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

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