Leopard syndrome causes
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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] 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; et al. (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.
- ↑ Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V; et al. (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. PMC 1380235. PMID 16358218.