Leopard syndrome causes: Difference between revisions
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{{Leopard syndrome}} | {{Leopard syndrome}} | ||
{{CMG}}; {{AE}} {{MM}} | {{CMG}}; {{AE}} {{MM}} | ||
==Causes== | ==Causes== | ||
Revision as of 22:03, 4 September 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Causes
Molecular studies have shown that Leopard syndrome is caused by different missense mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q22-qter.[1] the mutations cause a loss of catalytic activity of the SHP2 protein (the gene product of the PTPN11 gene), which is a previously unrecognized behavior for this class of mutations.[2] This interferes with growth factor and related signalling.
References
- ↑ Digilio, MC.; Sarkozy, A.; de Zorzi, A.; Pacileo, G.; Limongelli, G.; Mingarelli, R.; Calabrò, R.; Marino, B.; Dallapiccola, B. (2006). "LEOPARD syndrome: clinical diagnosis in the first year of life". Am J Med Genet A. 140 (7): 740–6. doi:10.1002/ajmg.a.31156. PMID 16523510. Unknown parameter
|month=ignored (help) - ↑ Tartaglia, M.; Martinelli, S.; Stella, L.; Bocchinfuso, G.; Flex, E.; Cordeddu, V.; Zampino, G.; Burgt, Iv.; Palleschi, A. (2006). "Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease". Am J Hum Genet. 78 (2): 279–90. doi:10.1086/499925. PMID 16358218. Unknown parameter
|month=ignored (help)