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Review

Deafness Genes and Their Diagnostic Applications

Cryns K. · van Camp G.

Author affiliations

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

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Audiol Neurootol 2004;9:2–22

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Article / Publication Details

First-Page Preview
Abstract of Review

Received: February 06, 2003
Accepted: July 30, 2003
Published online: December 19, 2003
Issue release date: January – February

Number of Print Pages: 21
Number of Figures: 1
Number of Tables: 5

ISSN: 1420-3030 (Print)
eISSN: 1421-9700 (Online)

For additional information: https://www.karger.com/AUD

Abstract

Hearing impairment (HI) is clinically and genetically very heterogeneous, and auditory genes are discovered at a very rapid pace. The identification of deafness genes is enabling us to understand the molecular process of hearing, and it offers prospects for DNA testing of HI. However, the routine application of these tests is hampered by the large number of genes involved in HI and by the fact that molecular screening of these genes is often quite expensive and time consuming. An important gene that should be considered in congenital or childhood onset autosomal recessive HI is GJB2 since mutations in this gene account for at least 50% of this type of HI. In the present review, we describe the known deafness genes and we provide an overview of the current, routinely used diagnostic DNA tests.

© 2004 S. Karger AG, Basel


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Article / Publication Details

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Abstract of Review

Received: February 06, 2003
Accepted: July 30, 2003
Published online: December 19, 2003
Issue release date: January – February

Number of Print Pages: 21
Number of Figures: 1
Number of Tables: 5

ISSN: 1420-3030 (Print)
eISSN: 1421-9700 (Online)

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