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

doi:10.1086/302461

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 journal › Article › peer-review

28 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 language	English
Pages (from-to)	141-150
Number of pages	10
Journal	American Journal of Human Genetics
Volume	65
Issue number	1
DOIs	https://doi.org/10.1086/302461
Publication status	Published - 1999
Externally published	Yes

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

Fukushima, K, Kasai, N, Ueki, Y, Nishizaki, K, Sugata, K, Hirakawa, S, Masuda, A, Gunduz, M, Ninomiya, Y, Masuda, Y, Sato, M, McGuirt, WT, Coucke, P, Van Camp, G & Smith, RJH 1999, 'A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3', American Journal of Human Genetics, vol. 65, no. 1, pp. 141-150. https://doi.org/10.1086/302461

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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.",

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

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doi = "10.1086/302461",

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AU - Fukushima, Kunihiro

AU - Kasai, Norio

AU - Ueki, Yasuyoshi

AU - Nishizaki, Kazunori

AU - Sugata, Kennichi

AU - Hirakawa, Satoshi

AU - Masuda, Akemi

AU - Gunduz, Mehmet

AU - Ninomiya, Yoshifumi

AU - Masuda, Yu

AU - Sato, Minako

AU - McGuirt, Wyman T.

AU - Coucke, Paul

AU - Van Camp, Guy

AU - Smith, Richard J.H.

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

Abstract

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