Journal article
A novel DFNA5 mutation does not cause hearing loss in an Iranian family
Journal of human genetics, Vol.52(6), pp.549-552
2007
DOI: 10.1007/s10038-007-0137-2
PMID: 17427029
Abstract
Mutations in DFNA5 lead to autosomal dominant non-syndromic sensorineural hearing loss that starts at the high frequencies. To date, only three DFNA5 mutations have been described, and although different at the genomic DNA level, all lead to exon 8 skipping at the mRNA level. This remarkable fact has led towards the hypothesis that DFNA5-associated hearing loss is caused by a gain-of-function mutation and not by haplo-insufficiency as previously thought. Here, we describe a fourth DFNA5 mutation: the insertion of a cytosine at nucleotide position 640 (AF073308.1:_c.640insC, AAC69324.1:_p. Thr215HisfsX8). Unlike the previously described mutations, this frameshift mutation truncates the protein in exon 5 of the gene. Although the mutation was found in an extended Iranian family with hereditary hearing loss, it does not segregate with the hearing loss phenotype and is even present in persons with normal hearing. This fact provides further support for the hypothesis that DFNA5-associated hearing loss is caused by a gain-of-function mutation.
Details
- Title: Subtitle
- A novel DFNA5 mutation does not cause hearing loss in an Iranian family
- Creators
- Lut Van Laer - Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610, Antwerp, Belgium. Lut.VanLaer@ua.ac.beNicole C Meyer - Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, IA, USAMahdi Malekpour - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranYasser Riazalhosseini - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranMahdi Moghannibashi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranKimia Kahrizi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranAnn Vandevelde - Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610, Antwerp, BelgiumFatemeh Alasti - Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610, Antwerp, BelgiumHossein Najmabadi - Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, IranGuy Van Camp - Department of Medical Genetics, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610, Antwerp, BelgiumRichard J H Smith - Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, IA, USA
- Resource Type
- Journal article
- Publication Details
- Journal of human genetics, Vol.52(6), pp.549-552
- DOI
- 10.1007/s10038-007-0137-2
- PMID
- 17427029
- NLM abbreviation
- J Hum Genet
- ISSN
- 1434-5161
- eISSN
- 1435-232X
- Publisher
- England
- Grant note
- R01 DC03544 / NIDCD NIH HHS
- Language
- English
- Date published
- 2007
- 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
- 9984007185202771
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