NDLI: A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

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A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Content Provider	Springer Nature Link
Author	Wattenhofer, Marie Sahin Calapoglu, Nilüfer Andreasen, Ditte Kalay, Ersan Caylan, Refik Braillard, Bastien Fowler Jaeger, Nicole Reymond, Alexandre Rossier, Bernard C. Karaguzel, Ahmet Antonarakis, Stylias E.
Copyright Year	2005
Abstract	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.
Starting Page	528
Ending Page	535
Page Count	8
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	117
Issue Number	6
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-07-14
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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