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Angeborene Innenohrschwerhörigkeit durch Mutationen im Connexin-26-Gen


Weigell-Weber, Maike; Schinzel, Albert; Hergersberg, Martin (2000). Angeborene Innenohrschwerhörigkeit durch Mutationen im Connexin-26-Gen. Swiss Medical Weekly, 130:1072-1077.

Abstract

Hearing loss is a frequent disease with an estimated incidence of 1:1000 in children. Hereditary hearing loss is characterised by enormous genetic heterogeneity, which makes diagnosis difficult. Approximately 50% of the Caucasian patients with autosomal recessive inherited hearing loss carry mutations in the connexin-
26 gene on chromosome 13. Standard screening procedures such as SSCP (single strand conformation polymorphism) analysis, DHPLC (denaturing high performance liquid chromatography) and subsequent sequencing are used to investigate this gene. A genetic test is thus available which can be offered to probands in genetic counselling.
We investigated 11 patients with hearing loss and found sequence aberrations in 7 patients, which is causative for the hearing loss in at least 5 patients. The first application of DHPLC in Switzerland is also documented.

Abstract

Hearing loss is a frequent disease with an estimated incidence of 1:1000 in children. Hereditary hearing loss is characterised by enormous genetic heterogeneity, which makes diagnosis difficult. Approximately 50% of the Caucasian patients with autosomal recessive inherited hearing loss carry mutations in the connexin-
26 gene on chromosome 13. Standard screening procedures such as SSCP (single strand conformation polymorphism) analysis, DHPLC (denaturing high performance liquid chromatography) and subsequent sequencing are used to investigate this gene. A genetic test is thus available which can be offered to probands in genetic counselling.
We investigated 11 patients with hearing loss and found sequence aberrations in 7 patients, which is causative for the hearing loss in at least 5 patients. The first application of DHPLC in Switzerland is also documented.

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Additional indexing

Other titles:Hereditary hearing loss due to mutations in the connexin-26 gene
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:Genetics (cliinical), hearing loss, connexin-26 gene, mutation analysis, autosomal recessive inheritance
Language:English
Date:May 2000
Deposited On:23 Jun 2023 08:34
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/12504533_Hereditary_hearing_loss_new_diagnostic_possibilities
Related URLs:https://smw.ch/index.php/smw/issue/archive (Publisher)
PubMed ID:10971940