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

J Med Genet. 2007 Jun;44(6):e81. doi: 10.1136/jmg.2007.049122.

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.

MeSH terms

  • Adult
  • Base Sequence
  • Child, Preschool
  • Connexin 26
  • Connexins
  • DNA Mutational Analysis
  • 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*
  • White People / genetics*

Substances

  • Connexins
  • GJB2 protein, human
  • Membrane Proteins
  • Neoplasm Proteins
  • Connexin 26
  • Serine Endopeptidases
  • TMPRSS3 protein, human

Associated data

  • GENBANK/AB038157