Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

doi:10.1007/s00109-001-0310-6

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Article

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

Journal of molecular medicine (Berlin, Germany) - 1 Feb 2002

Wattenhofer Marie, Di Iorio Mario Vincenzo, Rabionet Raquel, Dougherty Loretta, Pampanos Andreas, Schwede Torsten, Montserrat-Sentis Barbara, Arbones Maria Lourdes, Iliades Theofilos, Pasquadibisceglie Annamaria, D'Amelio Marcello, Alwan Sura, Rossier Colette, Dahl Hans-Henrik M, Petersen Michael B, Estivill Xavier, Gasparini Paolo, Scott Hamish S, Antonarakis Stylianos E

Abstract excerpt

Two loci for nonsyndromic recessive deafness located on chromosome 21q22.3 have previously been reported, DFNB8 and DFNB10. Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, was found to be responsible for both the DFNB8 and DFNB10 phenotypes. To determine the contribution of TMPRSS3 mutations in the general congenital/childhood nonsyndromic deaf population we performed mutation...

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PMID: 11907649
DOI: 10.1007/s00109-001-0310-6

Genes

TMPRSS3
GJB2

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