Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese

J. Akita, S. Abe, H. Shinkawa, W. J. Kimberling, S. Usami

    Research output: Contribution to journalArticlepeer-review

    35 Scopus citations

    Abstract

    Sixteen Japanese nonsyndromic autosomal dominant sensorineural hearing loss (ADSNHL) families were investigated clinically as well as genetically. Most families showed postlingual hearing loss. Although the severity of their hearing loss varied, most patients showed mild-moderate sensorineural hearing loss of a progressive nature. Mutation analysis was performed for the MYO7A, KCNQ4, and GJB3 genes, which are known to be responsible for autosomal dominant sensorineural hearing loss. The present study reports that a mutation in KCNQ4, a member of a large family of potassium channel genes, was responsible for ADSNHL in one Japanese family.

    Original languageEnglish (US)
    Pages (from-to)355-361
    Number of pages7
    JournalJournal of Human Genetics
    Volume46
    Issue number7
    DOIs
    StatePublished - 2001

    Keywords

    • Autosomal dominant
    • GJB3
    • KCNQ4
    • MYO7A
    • Nonsyndromic hearing loss

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

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