title: Rieger syndrome: a clinical, molecular, and biochemical analysis.
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.
authors.affiliation: Department of Biological Sciences, The University of Tulsa, Oklahoma 74104-3189, USA. brad-amendt@utulsa.edu
authors.forename: B A
authors.initials: BA
authors.lastname: Amendt
authors.forename: E V
authors.initials: EV
authors.lastname: Semina
authors.forename: W L
authors.initials: WL
authors.lastname: Alward
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000595:Amino Acid Sequence; D000818:Animals; D004268:DNA-Binding Proteins / Q000378:metabolism; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005901:Glaucoma / Q000151:congenital / Q000235:genetics; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D017354:Point Mutation / Q000235:genetics; D011388:Prolactin / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics* / Q000503:physiopathology; D050817:Transcription Factor Pit-1; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D015533:Transcriptional Activation; D000097577:Homeobox Protein PITX2
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; D051761:Paired Box Transcription Factors; D011388:Prolactin; D050817:Transcription Factor Pit-1; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C494187:POU1F1 protein, human; C101485:homeobox protein PITX1; C433629:homeobox protein PITX3