title: Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up.
abstract: This study reports a 25-year follow-up of a patient with De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephalus, and hearing loss) whose intelligence is normal. Short stature and hyperlaxity of joints later leading to severe joint pain were noted. Mutation analysis of candidate genes known or suspected to be associated with Axenfeld-Rieger eye malformations was performed. This included complete sequencing for PITX2, BARX1 and the forkhead domain of FOXC1. The results of these analyses were negative and suggest that De Hauwere syndrome is caused by a different gene.
authors.affiliation: Department of Medical Genetics, Alberta Children's Hospital & University of Calgary, Calgary, Alberta, Canada. brian.lowry@calgaryhealthregion.ca
authors.forename: R Brian
authors.initials: RB
authors.lastname: Lowry
authors.forename: Douglas B
authors.initials: DB
authors.lastname: Gould
authors.forename: Michael A
authors.initials: MA
authors.lastname: Walter
authors.forename: Paul R
authors.initials: PR
authors.lastname: Savage
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001827:Body Height; D005260:Female; D005500:Follow-Up Studies; D051858:Forkhead Transcription Factors / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; 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; C490667:BARX1 protein, human; C112743:FOXC1 protein, human