A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

Guy Van Camp; Henricus Kunst; Kris Flothmann; Wyman McGuirt; Jan Wauters; Henri Marres; Margriet Verstreken; Irina N Bespalova; Margit Burmeister; Paul H Van de Heyning; Richard J H Smith; Patrick J Willems; Cor W R J Cremers; Marci M Lesperance

doi:10.1136/jmg.36.7.532

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A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

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A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus

Guy Van Camp, Henricus Kunst, Kris Flothmann, Wyman McGuirt, Jan Wauters, Henri Marres, Margriet Verstreken, Irina N Bespalova, Margit Burmeister, Paul H Van de Heyning, …

Journal of medical genetics, Vol.36(7), pp.532-536

07/1999

DOI: 10.1136/jmg.36.7.532

PMID: 10424813

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Abstract

Non-syndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 reported gene localisations. We have identified a large Dutch family with autosomal dominant non-syndromic sensorineural hearing impairment. In most patients, the onset of hearing impairment is in the first or second decade of life, with a slow decline in the following decades, which stops short of profound deafness. The hearing loss is bilateral, symmetrical, and only affects low and mid frequencies up to 2000 Hz. In view of the phenotypic similarities of this family with an American family that has been linked to chromosome 4p16.3 (DFNA6), we investigated linkage to the DFNA6 region. Lod score calculations confirmed linkage to this region with two point lod scores above 6. However, as haplotype analysis indicated that the genetic defect in this family is located in a 5.6 cM candidate region that does not overlap the DFNA6 region, the new locus has been named DFNA14.

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Title: Subtitle: A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus
Creators: Guy Van Camp
Henricus Kunst
Kris Flothmann
Wyman McGuirt
Jan Wauters
Henri Marres
Margriet Verstreken
Irina N Bespalova
Margit Burmeister
Paul H Van de Heyning
Richard J H Smith
Patrick J Willems
Cor W R J Cremers
Marci M Lesperance
Resource Type: Journal article
Publication Details: Journal of medical genetics, Vol.36(7), pp.532-536
DOI: 10.1136/jmg.36.7.532
PMID: 10424813
NLM abbreviation: J Med Genet
ISSN: 0022-2593
eISSN: 1468-6244
Language: English
Date published: 07/1999
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: 9984007187102771

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