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Background  Mutant alleles of  TMPRSS3  are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of  TMPRSS3  in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of  TMPRSS3 .    Methods  We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for  TMPRSS3 . The structure of  TMPRSS3  was characterized bioinformatically and experimentally by sequencing novel cDNA clones of  TMPRSS3 .    Results  We identified mutations in  TMPRSS3  in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of  TMPRSS3  segregating in a six-generation extended family from Newfoundland. The spectrum of  TMPRSS3  mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of  TMPRSS3  with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues.    Conclusion  Mutations of  TMPRSS3  contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449) of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified  TMPRSS3  isoform  e  will be helpful in the functional characterization of the full length protein.

bmc medical genetics

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan