Journal article
A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3
American journal of human genetics, Vol.65(1), pp.141-150
1999
DOI: 10.1086/302461
PMID: 10364526
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.
Details
- Title: Subtitle
- A Gene for Fluctuating, Progressive Autosomal Dominant Nonsyndromic Hearing Loss, DFNA16, Maps to Chromosome 2q23-24.3
- Creators
- Kunihiro Fukushima - Department of Otolaryngology, Okayama University Medical School, Okayama, JapanNorio Kasai - Department of Otolaryngology, Okayama University Medical School, Okayama, JapanYasuyoshi Ueki - Department of Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, JapanKazunori Nishizaki - Department of Otolaryngology, Okayama University Medical School, Okayama, JapanKennichi Sugata - Department of Otolaryngology, Okayama University Medical School, Okayama, JapanSatoshi Hirakawa - Department of Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, JapanAkemi Masuda - Department of Otolaryngology, Okayama University Medical School, Okayama, JapanMehmet Gunduz - Department of Otolaryngology, Okayama University Medical School, Okayama, JapanYoshifumi Ninomiya - Department of Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, JapanYu Masuda - Department of Otolaryngology, Okayama University Medical School, Okayama, JapanMinako Sato - Department of Otolaryngology, Keio University, Tokyo, JapanWyman T McGuirt - Department of Molecular Biology and Biochemistry, Okayama University Medical School, Okayama, JapanPaul Coucke - Department of Medical Genetics, University of Antwerp, Antwerp, JapanGuy Van Camp - Department of Medical Genetics, University of Antwerp, Antwerp, JapanRichard J.H Smith - Department of Molecular Biology and Biochemistry, Okayama University Medical School, Okayama, Japan
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.65(1), pp.141-150
- DOI
- 10.1086/302461
- PMID
- 10364526
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 1999
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006326702771
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