A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophilia eyes absent gene (EYA1) are the most common cause of BOR syndrome. In this study, we found a Korean family showing clinical features of the disease. Mutation analysis of the EYA1 gene revealed a novel one-base-pair deletion resulting in truncated protein (c.321delT; p.Ala107fs). This is the first report of BOR syndrome caused by deletion mutation of the EYA1 gene in Korea.
Lee
Jong Dae
JD
Department of Otolaryngology-Head and Neck Surgery, Soonchunhyang University College of Medicine, Bucheon, South Korea.
Kim
Shi-Chan
SC
Koh
Yoon Woo
YW
Lee
Hye-Jin
HJ
Choi
Soo-Young
SY
Kim
Un-Kyung
UK
D000328:Adult; D001934:Branchial Region / Q000473:pathology; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics* / Q000473:pathology; D004423:Ear / Q000473:pathology; D005402:Fistula / Q000473:pathology; D016368:Frameshift Mutation / Q000235:genetics*; D034381:Hearing Loss / Q000503:physiopathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007668:Kidney / Q000473:pathology; D007723:Korea; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013936:Thymidine / Q000235:genetics; D055815:Young Adult
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases; D013936:Thymidine