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 journalArticle

29 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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