Document Detail

GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.
MedLine Citation:
PMID:  23039283     Owner:  NLM     Status:  Publisher    
Abstract 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.
Per-Inge Carlsson; Eva Karltorp; Eva Carlsson-Hansén; Henrik Ahlman; Claes Möller; Ulrika Vondöbeln
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-7
Journal Detail:
Title:  Acta oto-laryngologica     Volume:  -     ISSN:  1651-2251     ISO Abbreviation:  Acta Otolaryngol.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370354     Medline TA:  Acta Otolaryngol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Otorhinolaryngology, Central Hospital , Karlstad.
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