Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
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.
Elbracht
Miriam
M
Institute of Human Genetics, University Hospital Aachen, Aachen, Germany. mielbracht@ukaachen.de
Senderek
Jan
J
Eggermann
Thomas
T
Thürmer
Christian
C
Park
Jonas
J
Westhofen
Martin
M
Zerres
Klaus
K
D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D005858:Germany; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D012697:Serine Endopeptidases / Q000235:genetics*; D035781:Siblings; D044465:White People / Q000235:genetics*
D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D000072259:Connexin 26; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human