HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Lee, J. D. Articles by Kim, U.-K. Search for Related Content PubMed PubMed Citation Articles by Lee, J. D. Articles by Kim, U.-K.

A Novel Frameshift Mutation in the EYA1 Gene in a Korean Family with Branchio-Oto-Renal Syndrome

Address correspondence to Un-Kyung Kim, Ph.D., Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, 702-701, South Korea; tel 82 53 950 5353; fax 82 53 953 3066; e-mail kimuk{at}knu.ac.kr.

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.

Keywords: branchio-oto-renal syndrome, EYA1 gene mutation