| 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. |
| Authors | Miriam Elbracht, Jan Senderek, Thomas Eggermann, Christian Thürmer, Jonas Park, Martin Westhofen, Klaus Zerres
(Affiliation: Institute of Human Genetics, University Hospital Aachen, Aachen, Germany. mielbracht at ukaachen.de)
|
| Journal | Journal of medical genetics
(J Med Genet)
Vol. 44
Issue 6
Pg. e81
(Jun 2007)
ISSN: 1468-6244 England |
| PMID | 17551081
(Publication Type: Journal Article)
|
| Chemical References |
- Membrane Proteins
- Neoplasm Proteins
- Serine Endopeptidases
- TMPRSS3 protein, human
|
| Topics |
- Adult
- Base Sequence
- Child, Preschool
- DNA Mutational Analysis
- European Continental Ancestry Group
(genetics)
- Exons
(genetics)
- Female
- Genes, Recessive
- Germany
- Hearing Loss
(genetics)
- Heterozygote
- Humans
- Male
- Membrane Proteins
(genetics)
- Molecular Sequence Data
- Mutation
(genetics)
- Neoplasm Proteins
(genetics)
- Pedigree
- Serine Endopeptidases
(genetics)
- Siblings
|
