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

Internal Medicine Journal

Volumn 39, Issue 5, 2009, Pages 335-337

  Borghini, S ^a   Duca, M Di ^a   Prato, A Pini ^a   Lerone, M ^a   Martucciello, G ^b   Jasonni, V ^a   Ravazzolo, R ^a   Ceccherini, I ^a,c  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

Intestinal neuronal dysplasia; Mutation screening; SPRY2

Indexed keywords

DNA; NUCLEOTIDE;

ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; GENE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; INTESTINAL NEURONAL DYSPLASIA; INTESTINE INNERVATION; MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SPRY2 GENE;

DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC VARIATION; HUMANS; INTESTINAL DISEASES; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; SIGNAL TRANSDUCTION;

EID: 67650911594     PISSN: 14440903     EISSN: 14455994     Source Type: Journal    
DOI: 10.1111/j.1445-5994.2009.01907.x     Document Type: Article

References (13)

1. Hacohen N, Kramer S, Sutherland D, Hiromi Y, Krasnow M. Sprouty encodes a novel antagonist of FGF signaling that patterns apical branching of the Drosophila airways. Cell 1998 92 : 253 63.
2. Minowada G, Jarvis L, Chi C, Neubüser A, Sun X, Hacohen N et al. Vertebrate Sprouty genes are induced by FGF signaling and can cause chondrodysplasia when overexpressed. Development 1999 126 : 4465 75.
3. de Maximy A, Nakatake Y, Moncada S, Itoh N, Thiery J, Bellusci S. Cloning and expression pattern of a mouse homologue of drosophila sprouty in the mouse embryo. Mech Dev 1999 81 : 213 16.
4. Nutt S, Dingwell K, Holt C, Amaya E. Xenopus Sprouty2 inhibits FGF-mediated gastrulation movements but does not affect mesoderm induction and patterning. Genes Dev 2001 15 : 1152 66.
5. Taketomi T, Yoshiga D, Taniguchi K, Kobayashi T, Nonami A, Kato R et al. Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia. Nat Neurosci 2005 8 : 855 7.
6. Basson M, Akbulut S, Watson-Johnson J, Simon R, Carroll T, Shakya R et al. Sprouty1 is a critical regulator of GDNF/RET-mediated kidney induction. Dev Cell 2005 8 : 229 39.
7. Ishida M, Ichihara M, Mii S, Jijiwa M, Asai N, Enomoto A et al. Sprouty2 regulates growth and differentiation of human neuroblastoma cells through RET tyrosine kinase. Cancer Sci 2007 98 : 815 21.
8. Fadda B, Maier W, Meier-Ruge W, Schärli A, Daum R. Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis. Z Kinderchir 1983 38 : 305 11.
9. Newgreen D, Young H. Enteric nervous system: development and developmental disturbances - part 1. Pediatr Dev Pathol 2002 5 : 224 47.
10. Borchard F, Meier-Ruge W, Wiebecke B, Briner J, Müntefering H, Födisch H et al. Disorders of the innervation of the large intestine - classification and diagnosis. Results of a consensus conference of the Society of Gastroenteropathology 1 December 1990 in Frankfurt/Main. Pathologe 1991 12 : 171 4.
11. Kapur R. Neuronal dysplasia: a controversial pathological correlate of intestinal pseudo-obstruction. Am J Med Genet A 2003 122 : 287 93.
12. Vijayaraghavan R, Chandrashekar R, Melkote Jyotiprakash A, Kumar R, Rashmi M, Shanmukhappa Belagavi C. Intestinal neuronal dysplasia (type B) causing fatal small bowel ischaemia in an adult: a case report. Eur J Gastroenterol Hepatol 2006 18 : 773 6.
13. Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F et al. Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes. Eur J Hum Genet 2007 15 : 848 55.