Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 2000 Oct;57(11):1652-66
Date
11/25/2000Pubmed ID
11092457Pubmed Central ID
PMC11146825DOI
10.1007/pl00000647Scopus ID
2-s2.0-0033793783 (requires institutional sign-in at Scopus site) 103 CitationsAbstract
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.
Author List
Amendt BA, Semina EV, Alward WLAuthor
Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleAmino Acid Sequence
Animals
DNA-Binding Proteins
Eye Abnormalities
Glaucoma
Homeodomain Proteins
Humans
Molecular Sequence Data
Nuclear Proteins
Paired Box Transcription Factors
Point Mutation
Prolactin
Promoter Regions, Genetic
Syndrome
Tooth Abnormalities
Transcription Factor Pit-1
Transcription Factors
Transcriptional Activation