Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects

Authors: Borghini, S.; Duca, M. Di1; Prato, A. Pini2; Lerone, M.3; Martucciello, G.4; Jasonni, V.2; Ravazzolo, R.; Ceccherini, I.

Source: Internal Medicine Journal, Volume 39, Number 5, May 2009 , pp. 335-337(3)

Publisher: Wiley-Blackwell

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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.

Keywords: SPRY2; intestinal neuronal dysplasia; mutation screening

Document Type: Research Article


Affiliations: 1: Laboratory on Pathophysiology of Uremia and 2: Department of Pediatric Surgery, G. Gaslini Institute, 3: Laboratory of Molecular Genetics, 4: Paediatric Surgery Department, Policlinico San Matteo, Pavia, Italy

Publication date: May 1, 2009

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