rss
J Med Genet 44:e81 doi:10.1136/jmg.2007.049122
  • Online mutation report

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

  1. Miriam Elbracht1,
  2. Jan Senderek1,
  3. Thomas Eggermann1,
  4. Christian Thürmer2,
  5. Jonas Park2,
  6. Martin Westhofen2,
  7. Klaus Zerres1
  1. 1Institute of Human Genetics, University Hospital Aachen, Aachen, Germany
  2. 2Department of Otorhinolaryngology, Plastic Head and Neck Surgery, University Hospital Aachen, Aachen, Germany
  1. Correspondence to:
 Dr M Elbracht
 Institute of Human Genetics, University Hospital Aachen, Pauwelsstr 30, D-52074 Aachen, Germany; mielbracht{at}ukaachen.de
  • Received 11 January 2007
  • Accepted 9 March 2007
  • Revised 2 March 2007

Abstract

Mutations in the transmembrane protease, serine 3 (TMPRSS3) gene, encoding a transmembrane serine protease, cause autosomal recessive deafness childhood (DFNB8) or congenital onset (DFNB10). TMPRSS3 mutations have been mainly identified in patients from Asian and Mediterranean countries and seem to be a rare finding in the Northern European population so far. The identification of two novel pathogenic TMPRSS3 mutations (c.646C→T − R216C; c.916G→A − A306T) is described in four affected siblings of German origin with postlingual hearing loss, treated by bilateral cochlear implantation with good results. Although TMPRSS3 mutations are supposed to be a rare cause of autosomal recessive hearing loss, in families with postlingual disease onset TMPRSS3 is the most favourable candidate gene after exclusion of GJB2 mutations.

Footnotes

  • Competing interests: None declared.

  • Informed consent has been obtained from patients for publication of their details in this paper.