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Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
Author(s) -
Borghini S.,
Duca M. Di,
Prato A. Pini,
Lerone M.,
Martucciello G.,
Jasonni V.,
Ravazzolo R.,
Ceccherini I.
Publication year - 2009
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/j.1445-5994.2009.01907.x
Subject(s) - gene , pathogenesis , medicine , dysplasia , receptor tyrosine kinase , genetics , receptor , kinase , cancer research , pathology , biology
SPRY2 is an inducible inhibitor of signalling mediated by tyrosine kinases receptors, whose targeting causes intestinal hyperganglionosis in mice. In this light, we have undertaken a mutational analysis of the SPRY2 gene in patients affected with intestinal neuronal dysplasia (IND), without detecting nucleotide changes in any of the 26 DNA samples analysed, with the exception of two already known polymorphic variants. A role of the SPRY2 gene in IND pathogenesis can be thus excluded.