Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
- Miriam Elbracht1,
- Jan Senderek1,
- Thomas Eggermann1,
- Christian Thürmer2,
- Jonas Park2,
- Martin Westhofen2,
- Klaus Zerres1
- 1Institute of Human Genetics, University Hospital Aachen, Aachen, Germany
- 2Department of Otorhinolaryngology, Plastic Head and Neck Surgery, University Hospital Aachen, Aachen, Germany
- Correspondence to: Dr M Elbracht Institute of Human Genetics, University Hospital Aachen, Pauwelsstr 30, D-52074 Aachen, Germany;
- Received 11 January 2007
- Accepted 9 March 2007
- Revised 2 March 2007
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.
Competing interests: None declared.
Informed consent has been obtained from patients for publication of their details in this paper.