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

S. Borghini, M. Di Duca, A. Pini Prato, M. Lerone, G. Martucciello, V. Jasonni, R. Ravazzolo, I. Ceccherini

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)335-337
Number of pages3
JournalInternal Medicine Journal
Volume39
Issue number5
DOIs
Publication statusPublished - May 2009

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Keywords

  • Intestinal neuronal dysplasia
  • Mutation screening
  • SPRY2

ASJC Scopus subject areas

  • Internal Medicine

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