The prevalence of connexin 26 mutations in the Swedish population.
Mutations in GJB2, the gene encoding the protein Connexin 26, have been shown to account for as much as 50% of autosomal recessive, non-syndromic childhood hearing loss (ARNSHL). Early, correct diagnosis and intervention have greatly improved the possibilities for these children in learning and deve...
| Publicado en: | Audiological Medicine Vol. 3; no. 3; pp. 154 - 158 |
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| Autores principales: | , , , , |
| Formato: | pictorial research tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
Sep2005
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=106410458&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 106410458 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 1651386X REQ jtl: Audiological Medicine issn: 1651386X maglogo: Y pubinfo: dt: Sep2005 vid: 3 iid: 3 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 106410458 2009067721 10.1080/16513860500222404 106410458 ppf: 154 ppct: 4 formats: fmt: @attributes: type: P tig: atl: The prevalence of connexin 26 mutations in the Swedish population. aug: au: Hederstierna C Möller C Åhlman H Lundberg R Von Döbeln U affil: Department of Audiology, Karolinska University Hospital, S-171 76 Stockholm, Sweden; christina.hederstierna@karolinska.se sug: subj: Hearing Disorders Familial and Genetic Mutation Sweden Epidemiological Research Funding Source Genetic Screening Infant, Newborn Polymerase Chain Reaction Prevalence Sweden Human Infant, Newborn: birth-1 month ab: Mutations in GJB2, the gene encoding the protein Connexin 26, have been shown to account for as much as 50% of autosomal recessive, non-syndromic childhood hearing loss (ARNSHL). Early, correct diagnosis and intervention have greatly improved the possibilities for these children in learning and developing language skills. In recent years, many reports from varied parts of the world have described the local scene of mutations in Connexin 26. The prevalence differs with geographic location and assessment procedures. Mutations in Connexin 26 have until recently been identified in very few cases in Sweden, Norway and Denmark, and nationwide population samples have not been studied in the Scandinavian countries. In this study we present the results of a large nationwide and a regional study of the prevalence of the 35delG, L90P and 167delT mutations of the GJB2 gene in Sweden. A total of 2052 samples (dried blood spots) were analysed. 1501 samples were collected representing all of Sweden and 551 samples from northern Sweden. The allele frequencies in Sweden were found to be 35delG, 0.83%; L90P, 0.30%; and 167delT, 0%. The prevalence of mutations in Connexin 26 in Sweden seems to be comparable to that in other northern European countries. pubtype: Academic Journal doctype: pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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