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Erbliche Schwerhörigkeit: neue Möglichkeiten der Diagnostik


Hergersberg, Martin; Weigell-Weber, Maike (2000). Erbliche Schwerhörigkeit: neue Möglichkeiten der Diagnostik. Swiss Medical Weekly, 130:485-489.

Abstract

Mutations in many different genes can result in hearing loss. Using different molecular genetic methods, the disease-causing gene mutations can often be identified or at least localised to defined regions of the genome. These new diagnostic possibilities result from the localisation and identification of a number of hearing-loss genes in the last five years. Diagnostic investigations should always be accompanied by a genetic counselling of the family. In addition, the isolation thus far of 11 genes mutated in autosomal dominant inherited hearing loss, as well as of 6 genes mutated in autosomal recessive inherited hearing loss, has contributed to a better understanding of the molecular pathology of hearing loss in general. However, we are only beginning to see the whole picture, as an estimated 50 to 80 hearing loss genes remain to be discovered.

Abstract

Mutations in many different genes can result in hearing loss. Using different molecular genetic methods, the disease-causing gene mutations can often be identified or at least localised to defined regions of the genome. These new diagnostic possibilities result from the localisation and identification of a number of hearing-loss genes in the last five years. Diagnostic investigations should always be accompanied by a genetic counselling of the family. In addition, the isolation thus far of 11 genes mutated in autosomal dominant inherited hearing loss, as well as of 6 genes mutated in autosomal recessive inherited hearing loss, has contributed to a better understanding of the molecular pathology of hearing loss in general. However, we are only beginning to see the whole picture, as an estimated 50 to 80 hearing loss genes remain to be discovered.

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Additional indexing

Other titles:Inherited hearing loss: new diagnostic possibilities
Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > General Medicine
Uncontrolled Keywords:genetic hearing loss, mutation analysis, linkage analysis, connexin, Genetics (clinical)
Language:English
Date:1 April 2000
Deposited On:23 Jun 2023 08:01
Last Modified:29 Apr 2024 01:38
Publisher:EMH Swiss Medical Publishers
ISSN:0036-7672
OA Status:Closed
Official URL:https://www.researchgate.net/publication/237209075_Erbliche_Schwerhorigkeit_neue_Moglichkeiten_der_Diagnostik1
Related URLs:https://smw.ch/index.php/smw/issue/archive (Publisher)
PubMed ID:10812644
Project Information:
  • : FunderSNSF
  • : Grant ID(31-42482.94, 32-42171.94, 32-46782.96)
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  • : FunderHartmann-Müller-Stiftung, Zürich
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  • : FunderJulius-Klaus-Stiftung Zürich
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  • : FunderKanton Zürich
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