A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3

Kunihiro Fukushima, Norio Kasai, Yasuyoshi Ueki, Kazunori Nishizaki, Kennichi Sugata, Satoshi Hirakawa, Akemi Masuda, Mehmet Gunduz, Yoshifumi Ninomiya, Yu Masuda, Minako Sato, Wyman T. McGuirt, Paul Coucke, Guy Van Camp, Richard J.H. Smith

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

The sixteenth gene to cause autosomal dominant nonsyndromic hearing loss (ADNSHL), DFNA16, maps to chromosome 2q23-24.3 and is tightly linked to markers in the D2S2380-D2S335 interval. DFNA16 is unique in that it results in the only form of ADNSHL in which the phenotype includes rapidly progressing and fluctuating hearing loss that appears to respond to steroid therapy. This observation suggests that it may be possible to stabilize hearing through medical intervention, once the biophysiology of deafness due to DFNA16 is clarified. Especially intriguing is the localization of several voltage-gated sodium-channel genes to the DFNA16 interval. These cationic channels are excellent positional and functional DFNA16 candidate genes.

Original languageEnglish
Pages (from-to)141-150
Number of pages10
JournalAmerican Journal of Human Genetics
Volume65
Issue number1
DOIs
Publication statusPublished - Jan 1 1999

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Fukushima, K., Kasai, N., Ueki, Y., Nishizaki, K., Sugata, K., Hirakawa, S., Masuda, A., Gunduz, M., Ninomiya, Y., Masuda, Y., Sato, M., McGuirt, W. T., Coucke, P., Van Camp, G., & Smith, R. J. H. (1999). A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. American Journal of Human Genetics, 65(1), 141-150. https://doi.org/10.1086/302461