Autosomal dominant nonsyndromic hearing impairment

Lut Van Laer; Wyman T McGuirt; Tao Yang; Richard J.H Smith; Guy Van Camp

doi:10.1002/(SICI)1096-8628(19990924)89:3<167::AID-AJMG7>3.0.CO;2-V

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Autosomal dominant nonsyndromic hearing impairment

Journal article

Peer reviewed

Autosomal dominant nonsyndromic hearing impairment

Lut Van Laer, Wyman T McGuirt, Tao Yang, Richard J.H Smith and Guy Van Camp

American journal of medical genetics, Vol.89(3), pp.167-174

09/24/1999

DOI: 10.1002/(SICI)1096-8628(19990924)89:3<167::AID-AJMG7>3.0.CO;2-V

PMID: 10704191

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Abstract

Nearly all genes that have been localized for autosomal dominantly inherited hearing impairment are characterized by postlingual hearing loss that is progressive in nature. This auditory phenotype is in contrast to that of genes localized for autosomal recessive hearing impairment, which generally cause nonprogressive severe‐to‐profound or profound prelingual hearing loss. In most cases, extended pedigrees have been used to localize autosomal dominant deafness genes, To date, 22 autosomal dominant loci have been mapped, and 10 of these genes have been cloned. The functions of these deafness‐causing genes are diverse and include transcription factors, extracellular matrix components, ion channels, cytoskeletal components, and unknown functions. Interesting findings include the unexpected expression pattern of some of these genes and the discovery that in some genes, allele variants can cause either isolated hearing loss or syndromic deafness. The greatest challenge for future research will be identifying additional deafness‐causing genes and elucidating their function in the inner ear. Am. J. Med. Genet. (Semin. Med. Genet.) 89:167–174, 1999. @ 2000 Wiley‐Liss, Inc.

autosomal dominant

gene identification

hearing loss

Details

Title: Subtitle: Autosomal dominant nonsyndromic hearing impairment
Creators: Lut Van Laer - University of Antwerp
Wyman T McGuirt
Tao Yang
Richard J.H Smith
Guy Van Camp - University of Antwerp
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.89(3), pp.167-174
DOI: 10.1002/(SICI)1096-8628(19990924)89:3<167::AID-AJMG7>3.0.CO;2-V
PMID: 10704191
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: John Wiley & Sons, Inc
Number of pages: 8
Grant note: NIH (5‐T32‐DC00040; RO1‐DC03544)
Language: English
Date published: 09/24/1999
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: 9984256844002771

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