title: Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss.
abstract: 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.
  
  
  METHODS
  Retrospective cohort study.
  
  
  METHODS
  City of Bradford, UK.
  
  
  METHODS
  Overall, 177 children (152 families) were eligible; 147 children (123 families) were British Pakistani, and 30 children (29 families) were British White.
  
  
  METHODS
  DFNB1 testing was offered.
  
  
  METHODS
  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.
authors.affiliation: St Luke's Hospital, Little Horton Lane, Bradford BD5 0NA, UK. soo.yoong@bradfordhospitals.nhs.uk
authors.forename: Soo Y
authors.initials: SY
authors.lastname: Yoong
authors.forename: Lampros A
authors.initials: LA
authors.lastname: Mavrogiannis
authors.forename: John
authors.initials: J
authors.lastname: Wright
authors.forename: Lesley
authors.initials: L
authors.lastname: Fairley
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Bennett
authors.forename: Ruth S
authors.initials: RS
authors.lastname: Charlton
authors.forename: Nick
authors.initials: N
authors.lastname: Spencer
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004739:England / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D006319:Hearing Loss, Sensorineural / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012189:Retrospective Studies; D044465:White People / Q000235:genetics
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26