| A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome. | |
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MedLine Citation:
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PMID: 18763178 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant hereditary disorders characterized by the presence of hearing loss and branchial fistulae and cysts, with (BOR syndrome) or without (BO syndrome) renal malformations of varying degrees of severity. Mutations in the human homologous of the Drosophila eyes absent (EYA1) gene are frequently the cause of BOR/BO syndrome. Here we describe a Korean family with BO syndrome; the proband had preauricular pit, cup-shaped auricles, branchial fistula, and hearing loss, without renal involvement. Molecular genetic study revealed a novel mutation occurring in the consensus acceptor splice site of intron 8 (c.868-2A > G) in the EYA1 gene. To the best of our knowledge, this is the first report of a splice site mutation in a family with BO syndrome without renal involvement, further extending the phenotypic-genotypic heterogeneity of BOR/BO syndrome. |
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Authors:
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Min-Jung Kwon; Sung Hyun Boo; Hee-Jin Kim; Yang-Sun Cho; Won-Ho Chung; Sung Hwa Hong |
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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: Acta oto-laryngologica Volume: 129 ISSN: 1651-2251 ISO Abbreviation: Acta Otolaryngol. Publication Date: 2009 Jun |
Date Detail:
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Created Date: 2009-05-15 Completed Date: 2009-07-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370354 Medline TA: Acta Otolaryngol Country: Norway |
Other Details:
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Languages: eng Pagination: 688-93 Citation Subset: IM |
Affiliation:
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Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Seoul, Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Asian Continental Ancestry Group / genetics* Branchio-Oto-Renal Syndrome / diagnosis, genetics* Child Female Humans Intracellular Signaling Peptides and Proteins / genetics* Korea Male Mutation* Nuclear Proteins / genetics* Pedigree Protein Tyrosine Phosphatases / genetics* RNA Splice Sites / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/Nuclear Proteins; 0/RNA Splice Sites; EC 3.1.3.48/EYA1 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatases |
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