Journal article
The Gene for Pendred Syndrome Is Located between D7S501 and D7S692 in a 1.7-cM Region on Chromosome 7q
Genomics (San Diego, Calif.), Vol.40(1), pp.48-54
02/15/1997
DOI: 10.1006/geno.1996.4541
PMID: 9070918
Abstract
Pendred syndrome is an autosomal recessive disorder characterized by goiter and congenital deafness. The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a region that also contains a gene responsible for nonsyndromal hearing loss (DFNB4). We confirmed linkage to this chromosome 7 region in five Pendred families originating from different ethnic groups, with a highest cumulative lod score of 8.26 for marker D7S501. In combination with previous reports, our results define a candidate region for the Pendred gene of 1.7 cM flanked by markers D7S501 and D7S692.
Details
- Title: Subtitle
- The Gene for Pendred Syndrome Is Located between D7S501 and D7S692 in a 1.7-cM Region on Chromosome 7q
- Creators
- Paul Coucke - Department of Medical Genetics, University of Antwerp-UIA, 2610, Antwerp, BelgiumGuy Van Camp - Department of Medical Genetics, University of Antwerp-UIA, 2610, Antwerp, BelgiumOsman Demirhan - Department of Medical Biology, Faculty of Medicine, University of Cukurova, 01330, Balcali-Adana, TurkeyYilmaz Kabakkaya - Department of Otolaryngology, Orta Dogu Private Hospital, Adana, TurkeyWendy Balemans - Department of Medical Genetics, University of Antwerp-UIA, 2610, Antwerp, BelgiumPeter Van Hauwe - Department of Medical Genetics, University of Antwerp-UIA, 2610, Antwerp, BelgiumTom Van Agtmael - Department of Medical Genetics, University of Antwerp-UIA, 2610, Antwerp, BelgiumRichard J.H Smith - Department of Otolaryngology, University of Iowa, Iowa City, Iowa, 52242Agnete Parving - Department of Audiology, Bispebjerg Hospital, 2400, Copenhagen, DenmarkCuny H.H.M Bolder - Department of Otorhinolaryngology, University Hospital Nijmegen, The NetherlandsCor W.R.J Cremers - Department of Otorhinolaryngology, University Hospital Nijmegen, The NetherlandsPatrick J Willems - Department of Medical Genetics, University of Antwerp-UIA, 2610, Antwerp, Belgium
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.40(1), pp.48-54
- DOI
- 10.1006/geno.1996.4541
- PMID
- 9070918
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 02/15/1997
- 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
- 9984006455402771
Metrics
36 Record Views