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=" | 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="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. | ||
==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.; 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
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