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GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort
Department of Otorhinolaryngology, Central Hospital, Karlstad, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro, Sweden.ORCID iD: 0000-0001-6667-9923
Department of Otorhinolaryngology, Karolinska University Hospital, Stockholm, Sweden.
Department of Audiology, Örebro University Hospital, Örebro, Sweden.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
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2012 (English)In: Acta Oto-Laryngologica, ISSN 0001-6489, E-ISSN 1651-2251, Vol. 132, no 12, p. 1301-1305Article in journal (Refereed) Published
Abstract [en]

Conclusion: The most common mutation in the Swedish population was Connexin 26 (C×26) 35delG, which indicates that the percentage of Swedish persons with C×26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C×26 35delG mutation.

Objectives: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe.

Methods: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses.

Results: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation.

Place, publisher, year, edition, pages
London, United Kingdom: Informa Healthcare, 2012. Vol. 132, no 12, p. 1301-1305
Keywords [en]
Non-syndromic hearing impairment, genetic tests, neonatal screening
National Category
Medical and Health Sciences Otorhinolaryngology
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-26479DOI: 10.3109/00016489.2012.701018ISI: 000311550800010PubMedID: 23039283Scopus ID: 2-s2.0-84869836828OAI: oai:DiVA.org:oru-26479DiVA, id: diva2:570961
Available from: 2012-11-21 Created: 2012-11-21 Last updated: 2019-03-01Bibliographically approved

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Carlsson, Per-IngeMöller, Claes

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