Journal article
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
Nature genetics, Vol.20(2), pp.194-197
10/1998
DOI: 10.1038/2503
PMID: 9771715
Abstract
Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 loci mapped on the human genome1, however, only a limited number of genes implicated in hearing loss have been identified. We previously reported linkage to chromosome 7p15 for autosomal dominant hearing impairment segregating in an extended Dutch family2,3 (DFNA5). Here, we report a further refinement of the DFNA5 candidate region and the isolation of a gene from this region that is expressed in the cochlea. In intron 7 of this gene, we identified an insertion/deletion mutation that does not affect intron-exon boundaries, but deletes five G-triplets at the 3' end of the intron. The mutation co-segregated with deafness in the family and causes skipping of exon 8, resulting in premature termination of the open reading frame. As no physiological function could be assigned, the gene was designated DFNA5.
Details
- Title: Subtitle
- Nonsyndromic hearing impairment is associated with a mutation in DFNA5
- Creators
- Guy Van Camp - University of AntwerpLut Van Laer - University of AntwerpEgbert H Huizing - Utrecht UniversityMargriet Verstreken - University of AntwerpDiederick van Zuijlen - Department of Otorhinolaryngology, University Hospital of UtrechtJan G Wauters - University of AntwerpPaul J Bossuyt - University of AntwerpPaul Van de Heyning - University of AntwerpWyman T McGuirt - University of IowaRichard J.H Smith - University of IowaPatrick J Willems - University of AntwerpP. Kevin Legan - University of SussexGuy P Richardson - University of Sussex
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.20(2), pp.194-197
- DOI
- 10.1038/2503
- PMID
- 9771715
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 10/1998
- 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
- 9984256838402771
Metrics
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