Leopard syndrome causes: Difference between revisions

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Latest revision as of 16:16, 6 September 2013

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]

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 {{CMG}}; {{AE}} {{MM}}
-==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.<ref name="pmid16523510">{{cite journal| author=Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R et al.| title=LEOPARD syndrome: clinical diagnosis in the first year of life. | journal=Am J Med Genet A | year= 2006 | volume= 140 | issue= 7 | pages= 740-6 | pmid=16523510 | doi=10.1002/ajmg.a.31156 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16523510  }} </ref>  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="pmid16358218">{{cite journal| author=Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V et al.| title=Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | journal=Am J Hum Genet | year= 2006 | volume= 78 | issue= 2 | pages= 279-90 | pmid=16358218 | doi=10.1086/499925 | pmc=PMC1380235 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16358218  }} </ref>  This interferes with growth factor and related signalling.
 ==References==