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| {{CMG}}; {{AE}} {{MM}} | | {{CMG}}; {{AE}} {{MM}} |
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| ==Overview==
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| ==Causes==
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| 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.<ref name="Digilio-2006">{{Cite journal | last1 = Digilio | first1 = MC. | last2 = Sarkozy | first2 = A. | last3 = de Zorzi | first3 = A. | last4 = Pacileo | first4 = G. | last5 = Limongelli | first5 = G. | last6 = Mingarelli | first6 = R. | last7 = Calabrò | first7 = R. | last8 = Marino | first8 = B. | last9 = Dallapiccola | first9 = B. | title = LEOPARD syndrome: clinical diagnosis in the first year of life. | journal = Am J Med Genet A | volume = 140 | issue = 7 | pages = 740-6 | month = Apr | year = 2006 | doi = 10.1002/ajmg.a.31156 | PMID = 16523510 }}</ref>
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| 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.<ref name="Tartaglia-2006">{{Cite journal | last1 = Tartaglia | first1 = M. | last2 = Martinelli | first2 = S. | last3 = Stella | first3 = L. | last4 = Bocchinfuso | first4 = G. | last5 = Flex | first5 = E. | last6 = Cordeddu | first6 = V. | last7 = Zampino | first7 = G. | last8 = Burgt | first8 = Iv. | last9 = Palleschi | first9 = A. | title = Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | journal = Am J Hum Genet | volume = 78 | issue = 2 | pages = 279-90 | month = Feb | year = 2006 | doi = 10.1086/499925 | PMID = 16358218 }}</ref> This interferes with growth factor and related signalling.
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| ==References== | | ==References== |
Latest revision as of 16:16, 6 September 2013