Journal article
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
Nature genetics, Vol.23(4), pp.413-419
12/1999
DOI: 10.1038/70516
PMID: 10581026
Abstract
We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch) with autosomal dominant, non-syndromic hearing loss to have mutations in COL11A2 that are predicted to affect the triple-helix domain of the collagen protein. In both families, deafness is non-progressive and predominantly affects middle frequencies. Mice with a targeted disruption of Col11a2 also were shown to have hearing loss. Electron microscopy of the tectorial membrane of these mice revealed loss of organization of the collagen fibrils. Our findings revealed a unique ultrastructural malformation of inner-ear architecture associated with non-syndromic hearing loss, and suggest that tectorial membrane abnormalities may be one aetiology of sensorineural hearing loss primarily affecting the mid-frequencies.
Details
- Title: Subtitle
- Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
- Creators
- Karl B Shpargel - National Institute on Deafness and Other Communication Disorders, National Institutes of HealthEric Lynch - Department of Medicine, University of WashingtonHenricus P.M Kunst - Department of Otorhinolaryngology, University HospitalChristy Huybrechts - Department of Genetics, University of AntwerpGlenn E Green - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of IowaSai D Prasad - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of IowaRichard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of IowaAndrew J Griffith - National Institute on Deafness and Other Communication Disorders, National Institutes of HealthRichard Mayne - Department of Cell Biology, University of Alabama at BirminghamShi-Wu Li - Center for Gene Therapy, MCP Hahnemann University School of MedicineCor W.R.J Cremers - Department of Otorhinolaryngology, University HospitalRobert F Mueller - Department of Clinical Genetics, St James's HospitalMasamine Takanosu - Department of Cell Biology, University of Alabama at BirminghamMachiko Arita - Center for Gene Therapy, MCP Hahnemann University School of MedicineChristina Runge - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of IowaWyman T McGuirt - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of IowaHan G Brunner - Department of Otorhinolaryngology, University HospitalMary-Claire King - Department of Medicine, University of WashingtonGuy Van Camp - Department of Genetics, University of AntwerpDarwin J Prockop - Center for Gene Therapy, MCP Hahnemann University School of Medicine
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.23(4), pp.413-419
- DOI
- 10.1038/70516
- PMID
- 10581026
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 12/1999
- 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
- 9984006432202771
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