Document Detail


A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome.
MedLine Citation:
PMID:  19667416     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Jong Dae Lee; Shi-Chan Kim; Yoon Woo Koh; Hye-Jin Lee; Soo-Young Choi; Un-Kyung Kim
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of clinical and laboratory science     Volume:  39     ISSN:  1550-8080     ISO Abbreviation:  Ann. Clin. Lab. Sci.     Publication Date:  2009  
Date Detail:
Created Date:  2009-08-11     Completed Date:  2009-12-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0410247     Medline TA:  Ann Clin Lab Sci     Country:  United States    
Other Details:
Languages:  eng     Pagination:  303-6     Citation Subset:  IM    
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Soonchunhyang University College of Medicine, Bucheon, South Korea.
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MeSH Terms
Descriptor/Qualifier:
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:
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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