| A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. | |
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MedLine Citation:
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PMID: 19667416 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Jong Dae Lee; Shi-Chan Kim; Yoon Woo Koh; Hye-Jin Lee; Soo-Young Choi; Un-Kyung Kim |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annals of clinical and laboratory science Volume: 39 ISSN: 1550-8080 ISO Abbreviation: Ann. Clin. Lab. Sci. Publication Date: 2009 |
Date Detail:
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Created Date: 2009-08-11 Completed Date: 2009-12-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0410247 Medline TA: Ann Clin Lab Sci Country: United States |
Other Details:
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Languages: eng Pagination: 303-6 Citation Subset: IM |
Affiliation:
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Department of Otolaryngology-Head and Neck Surgery, Soonchunhyang University College of Medicine, Bucheon, South Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Branchial Region / pathology Branchio-Oto-Renal Syndrome / genetics*, pathology Ear / pathology Fistula / pathology Frameshift Mutation / genetics* Hearing Loss / physiopathology Humans Intracellular Signaling Peptides and Proteins / genetics* Kidney / pathology Korea Male Nuclear Proteins / genetics* Pedigree Protein Tyrosine Phosphatases / genetics* Thymidine / genetics Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/Nuclear Proteins; 50-89-5/Thymidine; EC 3.1.3.48/EYA1 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatases |
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