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

Intern Med J. 2009 May;39(5):335-7. doi: 10.1111/j.1445-5994.2009.01907.x.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Gene Frequency / genetics
  • Genetic Variation / genetics*
  • Humans
  • Intestinal Diseases / genetics*
  • Intestinal Diseases / pathology
  • Intestinal Diseases / physiopathology
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Membrane Proteins
  • Receptor Protein-Tyrosine Kinases / genetics
  • Signal Transduction / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • SPRY2 protein, human
  • Receptor Protein-Tyrosine Kinases