Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects.
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.
Borghini
S
S
Laboratory of Molecular Genetics, University of Genova, Genova, Italy.
Duca
M Di
MD
Pini Prato
A
A
Lerone
M
M
Martucciello
G
G
Jasonni
V
V
Ravazzolo
R
R
Ceccherini
I
I
D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007410:Intestinal Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008565:Membrane Proteins; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C485561:SPRY2 protein, human; D020794:Receptor Protein-Tyrosine Kinases