Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family |
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Authors: | Lee Kyu Yup Kim Sunghee Kim Un Kyung Ki Chang-Seok Lee Sang Heun |
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Affiliation: | Department of Otolaryngology, College of Medicine, Kyungpook National University, Daegu, Republic of Korea. |
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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. |
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Keywords: | Branchio-oto-renal syndrome BOR EYA1 Mutation Korean |
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