Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss
Yoong, S. Y., Mavrogiannis, L. A., Wright, John, 1963-, Fairley, Lesley, Bennett, Christopher P., Charlton, Ruth S. and Spencer, Nick, 1943-. (2011) Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss. Archives of Disease in Childhood, Vol.96 (No.9). pp. 798-803. ISSN 0003-9888Full text not available from this repository.
Official URL: http://dx.doi.org/10.1136/adc.2010.209262
Objective: To determine the clinical sensitivity of DFNB1 genetic testing (analysis of the connexin 26 gene GJB2) for non-syndromic sensorineural hearing loss (SNHL) in British Pakistani children and extend to a comparison with British White children and literature data.
Design: Retrospective cohort study.
Setting: City of Bradford, UK.
Patients: Overall, 177 children (152 families) were eligible; 147 children (123 families) were British Pakistani, and 30 children (29 families) were British White.
Interventions: DFNB1 testing was offered.
Main outcome measures: Detection rate for pathogenic bi-allelic GJB2 mutations.
Results: DFNB1 testing yielded positive results in 6.9% British Pakistani families compared with 15.4% British White families. Of 65 British Pakistani children tested (from 58 families), five children (from four families) were found to be homozygous for the common South Asian GJB2 mutation p. Trp24X. Of 14 British White children tested (from 13 families), bi-allelic pathogenic GJB2 mutations were seen in two children (from two families).
Conclusions: The contribution of DFNB1 to non-syndromic SNHL in the Bradford British Pakistani children appears to be low when compared with a White peer group and White populations in general. The high prevalence of genetic deafness in this community, attributed to family structure and immigration history, points to a dilution effect in favour of other recessive deafness genes/loci.
|Item Type:||Journal Article|
|Subjects:||Q Science > QH Natural history > QH426 Genetics
R Medicine > RF Otorhinolaryngology
|Divisions:||Faculty of Social Sciences > School of Health and Social Studies|
|Library of Congress Subject Headings (LCSH):||Medical genetics, Allelomorphism, Pakistanis -- Great Britain, Deafness -- Genetic aspects, Deafness in children, Consanguinity -- Health aspects -- Great Britain, Disease susceptibility -- Genetic aspects|
|Journal or Publication Title:||Archives of Disease in Childhood|
|Official Date:||September 2011|
|Page Range:||pp. 798-803|
|Access rights to Published version:||Restricted or Subscription Access|
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