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Hum Genet
2005 Oct 01;1176:528-35. doi: 10.1007/s00439-005-1332-x.
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A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
Wattenhofer M
,
Sahin-Calapoglu N
,
Andreasen D
,
Kalay E
,
Caylan R
,
Braillard B
,
Fowler-Jaeger N
,
Reymond A
,
Rossier BC
,
Karaguzel A
,
Antonarakis SE
.
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Pathogenic mutations in TMPRSS3, which encodes a transmembrane serine protease, cause non-syndromic deafness DFNB8/10. Missense mutations map in the low density-lipoprotein receptor A (LDLRA), scavenger-receptor cysteine-rich (SRCR), and protease domains of the protein, indicating that all domains are important for its function. TMPRSS3 undergoes proteolytic cleavage and activates the ENaC sodium channel in a Xenopus oocyte model system. To assess the importance of this gene in non-syndromic childhood or congenital deafness in Turkey, we screened for mutations affected members of 25 unrelated Turkish families. The three families with the highest LOD score for linkage to chromosome 21q22.3 were shown to harbor P404L, R216L, or Q398X mutations, suggesting that mutations in TMPRSS3 are a considerable contributor to non-syndromic deafness in the Turkish population. The mutant TMPRSS3 harboring the novel R216L missense mutation within the predicted cleavage site of the protein fails to undergo proteolytic cleavage and is unable to activate ENaC, thus providing evidence that pre-cleavage of TMPRSS3 is mandatory for normal function.
Afar,
Catalytic cleavage of the androgen-regulated TMPRSS2 protease results in its secretion by prostate and prostate cancer epithelia.
2001, Pubmed
Afar,
Catalytic cleavage of the androgen-regulated TMPRSS2 protease results in its secretion by prostate and prostate cancer epithelia.
2001,
Pubmed
Ahmed,
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
2004,
Pubmed
Ben-Yosef,
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
2001,
Pubmed
Berry,
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region.
2000,
Pubmed
Bonné-Tamir,
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
1996,
Pubmed
Chaing,
Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor.
1994,
Pubmed
Couloigner,
Location and function of the epithelial Na channel in the cochlea.
2001,
Pubmed
Estivill,
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
1998,
Pubmed
Fuse,
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
1999,
Pubmed
Geering,
A role for the beta-subunit in the expression of functional Na+-K+-ATPase in Xenopus oocytes.
1989,
Pubmed
,
Xenbase
Green,
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
1999,
Pubmed
Grimberg,
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.
1989,
Pubmed
Grundy,
Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.
1989,
Pubmed
Guipponi,
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
2002,
Pubmed
,
Xenbase
Hedstrom,
Serine protease mechanism and specificity.
2002,
Pubmed
Kulozik,
Raised Hb F levels in sickle cell disease are caused by a determinant linked to the beta globin gene cluster.
1987,
Pubmed
Lazure,
The peptidase zymogen proregions: nature's way of preventing undesired activation and proteolysis.
2002,
Pubmed
Lee,
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
2003,
Pubmed
Masmoudi,
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
2001,
Pubmed
Mekus,
Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.
2000,
Pubmed
Nance,
Relevance of connexin deafness (DFNB1) to human evolution.
2004,
Pubmed
Pampanos,
Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
2002,
Pubmed
Park,
Connexin26 mutations associated with nonsyndromic hearing loss.
2000,
Pubmed
Petit,
Genes responsible for human hereditary deafness: symphony of a thousand.
1996,
Pubmed
Rabionet,
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
2000,
Pubmed
Sahin-Tóth,
Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.
2000,
Pubmed
Sahin-Tóth,
Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis.
2000,
Pubmed
Scott,
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
2001,
Pubmed
Scriver,
Monogenic traits are not simple: lessons from phenylketonuria.
1999,
Pubmed
Serjeant,
Geography and the clinical picture of sickle cell disease. An overview.
1989,
Pubmed
Sommer,
Missense mutations and the magnitude of functional deficit: the example of factor IX.
1992,
Pubmed
Uyguner,
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
2003,
Pubmed
Vallet,
An epithelial serine protease activates the amiloride-sensitive sodium channel.
1997,
Pubmed
,
Xenbase
Veske,
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.
1996,
Pubmed
Wattenhofer,
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
2002,
Pubmed
Wood,
Hb F synthesis in sickle cell anaemia: a comparison of Saudi Arab cases with those of African origin.
1980,
Pubmed
Wulff,
Twenty two novel mutations of the factor VII gene in factor VII deficiency.
2000,
Pubmed
