Journal article
Linkage Analysis of Progressive Hearing Loss in Five Extended Families Maps the DFNA2 Gene to a 1.25-Mb Region on Chromosome 1p
Genomics (San Diego, Calif.), Vol.41(1), pp.70-74
04/01/1997
DOI: 10.1006/geno.1997.4624
PMID: 9126484
Abstract
Thus far, 13 genes for autosomal dominant hearing loss have been localized to specific chromosomal regions, but none of the genes has been cloned. Only a single family has been linked to each of these loci, with the exception of DFNA2. DFNA2 was originally mapped in two extended families originating from Indonesia and the United States. In this study we report linkage to DFNA2 in three additional large families with autosomal dominant hearing loss from Belgium and The Netherlands. These five DFNA2 families show a similar progressive sensorineural hearing loss, starting in the high frequencies and also affecting the middle and low frequencies later in life. Combining the information from all linked families, the candidate region that is most likely to contain the DFNA2 gene was reduced to a 1.25-Mb region between markers D1S432 and MYCL1. Different haplotypes segregating with the hearing loss were found in all five families, suggesting that different mutations are present in the same gene. These results indicate that DFNA2 is most likely an important gene for autosomal dominant hearing loss.
Details
- Title: Subtitle
- Linkage Analysis of Progressive Hearing Loss in Five Extended Families Maps the DFNA2 Gene to a 1.25-Mb Region on Chromosome 1p
- Creators
- Guy Van Camp - Department of Medical Genetics, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumPaul J Coucke - Department of Medical Genetics, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumHendrik Kunst - Department of Otorhinolaryngology, University Hospital, NL-6500, Nijmegen, The NetherlandsIsabelle Schatteman - Department of Medical Genetics, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumDésirée Van Velzen - Department of Medical Genetics, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumHenri Marres - Department of Otorhinolaryngology, University Hospital, NL-6500, Nijmegen, The NetherlandsMarleen van Ewijk - Department of Otorhinolaryngology, University Hospital, NL-6500, Nijmegen, The NetherlandsFrank Declau - Department of Otorhinolaryngology, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumPeter Van Hauwe - Department of Medical Genetics, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumJohan Meyers - Department of Medical Genetics, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumJudy Kenyon - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Nebraska, 68131Shelley D Smith - Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Nebraska, 68131Richard J.H Smith - Department of Otolaryngology, University of Iowa Hospital, Iowa City, Iowa, 52242Bulantrisna Djelantik - Department of Otorhinolaryngology, Padjadjaran University Medical School, 40161, Bandung, IndonesiaCor W.R.J Cremers - Department of Otorhinolaryngology, University Hospital, NL-6500, Nijmegen, The NetherlandsPaul H Van de Heyning - Department of Otorhinolaryngology, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, BelgiumPatrick J Willems - Department of Medical Genetics, University of Antwerp–UIA, Universiteitsplein 1, 2610, Antwerp, Belgium
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.41(1), pp.70-74
- DOI
- 10.1006/geno.1997.4624
- PMID
- 9126484
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 04/01/1997
- 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
- 9984006438702771
Metrics
14 Record Views