rss
J Med Genet 1998;35:151-152 doi:10.1136/jmg.35.2.151
  • Research Article

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

  1. N J Lench,
  2. A F Markham,
  3. R F Mueller,
  4. D P Kelsell,
  5. R J Smith,
  6. P J Willems,
  7. I Schatteman,
  8. H Capon,
  9. P J Van De Heyning,
  10. G Van Camp
  1. Molecular Medicine Unit, St James's University Hospital, UK.

      Abstract

      We report a mutation in the connexin 26 gene (Cx26) in a consanguineous Moroccan family linked to the DFNA3/DFNB1 locus on human chromosome 13q11-q12. Affected subjects display congenital, bilateral, sensorineural hearing loss. We have previously identified Cx26 mutations in consanguineous Pakistani families. This current finding indicates that Cx26 mutations are not restricted to ethnically and geographically distinct populations. This is an important observation since it will help to determine the overall contribution of connexin 26 mutations to autosomal deafness in different populations.

      This Article

      1. Abstract
      2. PDF

      Responses

      1. Submit a response
      2. No responses published

      Register for free content

      The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

      Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.