title: Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.
abstract: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing loss and renal anomalies. Recent advances in molecular genetics have shown a human homologue of the Drosophila 'eyes absent' gene (EYA1) on chromosome band 8q13.3 to be the most common cause of BOR syndrome. Several mutations have been identified in the EYA1 gene in patients with BOR syndrome worldwide. Here, we report a second Korean family with BOR syndrome with a novel nonsense EYA1 mutation.
authors.affiliation: Department of Otolaryngology, College of Medicine, Kyungpook National University, Daegu, Republic of Korea.
authors.forename: Kyu Yup
authors.initials: KY
authors.lastname: Lee
authors.forename: Sunghee
authors.initials: S
authors.lastname: Kim
authors.forename: Un Kyung
authors.initials: UK
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Sang Heun
authors.initials: SH
authors.lastname: Lee
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D020539:Sequence Analysis, Protein
chemical_list: D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases