Leopard syndrome causes: Difference between revisions
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==Causes== | ==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=" | 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== | ==References== | ||
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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.