title: Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss.
abstract: OBJECTIVE
  The etiology of hearing loss is heterogeneous and falls into the two broad categories of genetic and environmental. In the genetic subgroup, 70% are non syndromic. Fifty percent of nonsyndromic sensorineural deafness is due to a mutation in the connexin 26 gene. This article presents the detection rate of connexin mutations in a multiethnic Canadian population.
  
  
  METHODS
  A study of patients with nonsyndromic hearing loss seen over a period of 2 years who had connexin 26 mutation testing.
  
  
  RESULTS
  Nine of the 18 patients had connexin 26 mutations.
  
  
  CONCLUSIONS
  The majority of our patients with connexin 26 mutations had moderate to profound hearing loss. Testing for connexin mutations should be standard care because it accounts for a large proportion of individuals with nonsyndromic hearing loss. Reasons for testing include ruling out a syndromic cause, predicting moderate to profound hearing loss, and the need for language intervention, cochlear implants, and genetic counselling.
authors.affiliation: The F. Clarke Fraser Clinical Genetics Unit, Montreal, QC.
authors.forename: Mary Ann
authors.initials: MA
authors.lastname: Thomas
authors.forename: Vazken M
authors.initials: VM
authors.lastname: Der Kaloustian
authors.forename: Ted L
authors.initials: TL
authors.lastname: Tewfik
mesh_terms: D002170:Canada; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D018450:Disease Progression; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D006312:Hearing Loss, Bilateral / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D017630:Connexins; D000072259:Connexin 26