A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

R Snoeckx; H Kremer; R Ensink; K Flothmann; A de Brouwer; R Smith; C Cremers; G Van Camp

doi:10.1136/jmg.2003.010702

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A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

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A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

R Snoeckx, H Kremer, R Ensink, K Flothmann, A de Brouwer, R Smith, C Cremers and G Van Camp

Journal of medical genetics, Vol.41(1), pp.11-13

01/2004

DOI: 10.1136/jmg.2003.010702

PMCID: PMC1757249

PMID: 14729819

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Abstract

Objective: To investigate the genes involved in a Dutch family with NSSHL. Methods: Linkage analysis in a large Dutch pedigree with progressive bilateral loss of the mid and high frequencies, in which a novel dominant locus for postlingual NSSHL (DFNA31) has been identified. Results: DFNA31 was found to be located in a 7.5 cM region of chromosome 6p21.3 between D6S276 (telomeric) and D6S273 (centromeric), with a maximum two point LOD score of 5.99 for D6S1624. DNA sequencing of coding regions and exon/intron boundaries of two candidate genes ( POU5F1, GABBR1 ) in this interval did not reveal disease causing mutations. Conclusions: Haplotype analysis indicated that the genetic defect in this family does not overlap the DFNA13 and DFNA21 regions that are also located on 6p. Identification of the disease gene will be of major importance in understanding the pathophysiology of hearing impairment.

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Title: Subtitle: A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3
Creators: R Snoeckx - Department of Medical Genetics, University of Antwerp, Belgium
H Kremer - Department of Medical Genetics, University of Antwerp, Belgium
R Ensink - Department of Medical Genetics, University of Antwerp, Belgium
K Flothmann - Department of Medical Genetics, University of Antwerp, Belgium
A de Brouwer - Department of Medical Genetics, University of Antwerp, Belgium
R Smith - Department of Medical Genetics, University of Antwerp, Belgium
C Cremers - Department of Medical Genetics, University of Antwerp, Belgium
G Van Camp - Department of Medical Genetics, University of Antwerp, Belgium
Resource Type: Journal article
Publication Details: Journal of medical genetics, Vol.41(1), pp.11-13
DOI: 10.1136/jmg.2003.010702
PMID: 14729819
PMCID: PMC1757249
NLM abbreviation: J Med Genet
ISSN: 0022-2593
eISSN: 1468-6244
Publisher: BMJ Group
Language: English
Date published: 01/2004
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: 9984006343402771

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