Case report: A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome

Dae Lee Jong, Shi Chan Kim, Woo Koh Yoon, Hye Jin Lee, Soo Young Choi, Un Kyung Kim

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)303-306
Number of pages4
JournalAnnals of Clinical and Laboratory Science
Volume39
Issue number3
Publication statusPublished - 2009 Jun 1

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology
  • Molecular Biology
  • Hematology
  • Clinical Biochemistry
  • Medical Laboratory Technology

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