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

被引：11

作者：

Borghini, S. ^{[1
,4
]}

Di Duca, M. ^{[2
]}

Prato, A. Pini ^{[3
]}

Lerone, M. ^{[1
]}

Martucciello, G. ^{[5
]}

Jasonni, V. ^{[3
]}

Ravazzolo, R. ^{[1
,4
]}

Ceccherini, I. ^{[1
]}

机构：

[1] Ist Giannina Gaslini, Mol Genet Lab, I-16148 Genoa, Italy

[2] Ist Giannina Gaslini, Lab Pathophysiol Uremia, I-16148 Genoa, Italy

[3] Ist Giannina Gaslini, Dept Pediat Surg, I-16148 Genoa, Italy

[4] Univ Genoa, Dept Pediat, Genoa, Italy

[5] Policlin San Matteo, Dept Paediat Surg, I-27100 Pavia, Italy

来源：

INTERNAL MEDICINE JOURNAL | 2009年 / 39卷 / 05期

关键词：

SPRY2; intestinal neuronal dysplasia; mutation screening; NEURONAL DYSPLASIA; SPROUTY; INDUCTION;

D O I：

10.1111/j.1445-5994.2009.01907.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：335 / 337

页数：3

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