ABSTRACT
Mutant alleles in the TMPRSS3 (ECHOS1) gene on chromosome 21 have been identified in two forms of hereditary nonsyndromic recessive deafness, DFNB10 and DFNB8. A novel mutation mechanism, insertion of β-satellites, has been found in one of these families. TMPRSS3 encodes for a transmembrane serine protease that also contains LDLRA and SRCR domains. Missense mutations in all of these domains have been identified in patients with deafness. Although TMPRSS3 mutations are not a common cause of hereditary deafness, the elucidation of their pathogenetic mechanisms is important for the understanding of the hearing process, and may provide targets for therapeutic interventions.
