EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

Shin Ichi Usami, Satoko Abe, Hideichi Shinkawa, Karen Deffenbacher, Shrawan Kumar, William J. Kimberling

    Research output: Contribution to journalArticlepeer-review

    26 Scopus citations

    Abstract

    Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis.

    Original languageEnglish (US)
    Pages (from-to)261-265
    Number of pages5
    JournalJournal of Human Genetics
    Volume44
    Issue number4
    DOIs
    StatePublished - 1999

    Keywords

    • Branchio-oto-renal (BOR) syndrome
    • EYA1
    • Hearing impairment
    • Japanese
    • Mutation

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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