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Extra resources for Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling
The hallmark of JMML cells is the hypersensitive pattern of myeloid progenitor colony growth in response to GM-CSF, which is due to a selective inability to down-regulate RAS. Indeed, approximately 50% of children with JMML exhibit either oncogenic RAS mutations or neurofibromin loss of function, the latter is a GTPase activating protein (GAP) for RAS encoded by the NF1 tumor suppressor gene. PTPN11 mutation analysis on a relatively large number of children with NS and JMML has demonstrated the presence of germline mutations in the majority of cases, as well as the occurrence of genotype-phenotype correlations [17, 20, 22].
J Adol Health 2003;32:94–97. 130 Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME: Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome. Am J Med Genet A 2006;139:239–242. 131 Ganesan V, Kirkham FJ: Noonan syndrome and Moyamoya. Pediatr Neurol 1997;16:256–258. 132 Yamashita Y, Kusaga A, Koga Y, Nagamitsu S-I, Matsuishi T: Noonan syndrome, Moyamoya-like vascular changes, and antiphospholipid antibodies. Pediatr Neurol 2004;31: 364–366.
New information concerning gain-of-function Shp-2 and development has emerged through work with transgenic flies . The Drosophila homolog of PTPN11, corkscrew (csw), acts downstream of several receptor tyrosine kinases 26 controlling developmental processes . While ubiquitous expression of leukemia-associated csw transgenic alleles engendered embryonic or larval lethality, expression of an NS-causing allele, N308D, resulted in ectopic wing vein formation. Activation of Ras was necessary but not sufficient for the expression of these phenotypes.