title: Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
abstract: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.
authors.affiliation: The Kennedy Center, Medical Genetics Laboratory, Glostrup, Denmark. zet@kennedy.dk
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Daniella
authors.initials: D
authors.lastname: Bach-Holm
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000818:Animals; D000869:Anterior Eye Segment / Q000002:abnormalities / Q000196:embryology; D051858:Forkhead Transcription Factors / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D000097577:Homeobox Protein PITX2
chemical_list: D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C112743:FOXC1 protein, human