Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33

C Pusch; B Meyer; S Kupka; R Smith; A Lalwani; H.-P Zenner; N Blin; P Nürnberg; M Pfister

doi:10.1007/s00109-004-0538-z

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Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33

Journal article

Peer reviewed

Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33

C Pusch, B Meyer, S Kupka, R Smith, A Lalwani, H.-P Zenner, N Blin, P Nürnberg and M Pfister

Journal of molecular medicine (Berlin, Germany), Vol.82(6), pp.398-402

06/2004

DOI: 10.1007/s00109-004-0538-z

PMID: 15042303

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Abstract

Many forms of autosomal dominant non-syndromic hearing impairment are known. While the underlying gene defects and causative mutations have been discovered for some forms, the gene responsible for DFNA4 has remained elusive to date. Examination of a German four-generation kindred led to the identification of a 1.44 Mb map segment in contig NT_011109 as being the most likely DFNA4 candidate region in 19q13.33. The recombination breakpoints in this family and the intervals of two previously reported DFNA4 families allowed us to delineate a minimum consensus region between the markers D19S879 and D19S246. In our family, a maximum two-point LOD score of 4.5 was obtained at theta =0 for the marker D19S867. Within the refined DFNA4 interval the public databases list more than 50 genes, from which several appear to be promising DFNA4 candidates due to similarities with animal models and with other causative genes involved in hearing disability.

Deafness

Medicine

DFNA4

Autosomal dominant mode of inheritance

Candidate gene

Hearing impairment

Audiogram

Details

Title: Subtitle: Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33
Creators: C Pusch - Institute of Anthropology and Human Genetics, Division of Molecular Genetics University of Tübingen 72074 Tübingen Germany
B Meyer - Gene Mapping Center Max Delbrueck Center for Molecular Medicine Berlin Germany
S Kupka - Department of Otolaryngology University Hospital Tübingen Tübingen Germany
R Smith - Department of Otolaryngology, Molecular Otolaryngology Research Labs University of Iowa Iowa City Iowa USA
A Lalwani - Department of Otolaryngology NYU School of Medicine New York New York USA
H.-P Zenner - Department of Otolaryngology University Hospital Tübingen Tübingen Germany
N Blin - Institute of Anthropology and Human Genetics, Division of Molecular Genetics University of Tübingen 72074 Tübingen Germany
P Nürnberg - Institute of Medical Genetics, Charité Humboldt University Berlin Germany
M Pfister - Department of Otolaryngology University Hospital Tübingen Tübingen Germany
Resource Type: Journal article
Publication Details: Journal of molecular medicine (Berlin, Germany), Vol.82(6), pp.398-402
DOI: 10.1007/s00109-004-0538-z
PMID: 15042303
NLM abbreviation: J Mol Med (Berl)
ISSN: 0946-2716
eISSN: 1432-1440
Publisher: Springer-Verlag; Berlin/Heidelberg
Language: English
Date published: 06/2004
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: 9984006340002771

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