title: Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
abstract: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. The prevalence of BOR syndrome is 1/40,000 in Western countries, and nationwide surveillance in 2009-2010 identified approximately 250 BOR patients in Japan. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown. This review article discusses the epidemiology, clinical symptoms, genetic background and management of BOR syndrome.
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Morisada
authors.forename: Kandai
authors.initials: K
authors.lastname: Nozu
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D009687:Nuclear Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C099236:SIX1 protein, human; C106687:SIX5 protein, human; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases
keywords: EYA1; SIX1; branchio-oto-renal syndrome; hearing loss; renal anomaly