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Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment

Gürtler, Nicolas and Egenter, Carole and Bösch, Nemya and Plasilova, Martina. (2008) Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment. Acta oto-laryngologica, Vol. 128, no. 10. pp. 1056-1062.

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Official URL: http://edoc.unibas.ch/dok/A6006904

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Abstract

CONCLUSION: Biallelic Cx26 mutations are the most common cause of autosomal recessive nonsyndromic hearing impairment (ARNHI) in Switzerland. Mutations in Cx30 and 31, digenic mutations as well as large deletions/duplications, are unlikely to be a major cause of hearing loss in Swiss patients with ARNHI. Multiplex ligation-dependent probe amplification (MLPA) is a highly accurate screening method for detection of c.del(GJB6-D13S1830). OBJECTIVES: The intent of this study was to investigate the prevalence of the point and digenic mutations including large deletions and duplications in the Cx26, 30, and 31 genes in a Swiss patient cohort with ARNHI and cochlear implant. PATIENTS AND METHODS: The coding regions of Cx26, 30, and 31 were sequenced in 32 patients. Large deletions/duplications were assessed by MLPA. RESULTS: In one patient digenic heterozygous mutations involving Cx26 (c.35delG) and Cx30 (c.del(GJB6-D13S1830)) were identified. Biallelic Cx26 mutations were detected in 31%. One putative mutation (c.94C<T) was found in Cx31. MLPA analysis did not reveal any additional deletion or duplication in all three Cx genes, except for the heterozygous c.del(GJB6-D13S1830) deletion.
Faculties and Departments:03 Faculty of Medicine > Bereich Spezialfächer (Klinik) > Ehemalige Einheiten Spezialfächer (Klinik) > Oto-Rhino-Laryngologie AG (Podvinec)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Spezialfächer (Klinik) > Ehemalige Einheiten Spezialfächer (Klinik) > Oto-Rhino-Laryngologie AG (Podvinec)
UniBasel Contributors:Gürtler, Nicolas A.L.
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Marcus
ISSN:0001-6489
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:25 Apr 2014 08:00
Deposited On:25 Apr 2014 08:00

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