title: EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.
abstract: Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis.
authors.affiliation: Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan. usami@cc.hirosaki-u.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Usami
authors.forename: S
authors.initials: S
authors.lastname: Abe
authors.forename: H
authors.initials: H
authors.lastname: Shinkawa
authors.forename: K
authors.initials: K
authors.lastname: Deffenbacher
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: W J
authors.initials: WJ
authors.lastname: Kimberling
mesh_terms: D001299:Audiometry; D019280:Branchio-Oto-Renal Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007564:Japan; D007668:Kidney / Q000000981:diagnostic imaging; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D015534:Trans-Activators / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases