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• W1891978120 abstract "Segmental overgrowth disorders due to of somatic mutations in phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA), are designated as the PIK3CA-related overgrowth spectrum (PROS), named as a spectrum because of their clinical diversity. 1 Keppler-Noreuil K.M. Rios J.J. Parker V.E. Semple R.K. Lindhurst M.J. Sapp J.C. et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015; 167A: 287-295 Crossref PubMed Scopus (293) Google Scholar Over the past 10 years, there have been a tremendous number of reports of various segmental overgrowth disorders. 2 Neri G. Moscarda M. Overgrowth syndromes: a classification. Endocr Dev. 2009; 14: 53-60 Crossref PubMed Scopus (11) Google Scholar Recently, somatic activating mutations in the phosphatidylinositol-3-kinase (PI3K)/Protein Kinase B (AKT)/mammalian target of rapamycin (mTOR) 1 Keppler-Noreuil K.M. Rios J.J. Parker V.E. Semple R.K. Lindhurst M.J. Sapp J.C. et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015; 167A: 287-295 Crossref PubMed Scopus (293) Google Scholar , 3 Lee J.H. Huynh M. Silhavy J.L. Kim S. Dixon-Salazar T. Heiberg A. et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012; 44: 941-945 Crossref PubMed Scopus (469) Google Scholar pathway have been reported in several of these segmental overgrowth conditions. Whereas AKT3 is expressed most strongly in the nervous system, 4 Easton R.M. Cho H. Roovers K. Shineman D.W. Mizrahi M. Forman M.S. et al. Role for Akt3/protein kinase Bgamma in attainment of normal brain size. Mol Cell Biol. 2005; 25: 1869-1878 Crossref PubMed Scopus (474) Google Scholar the other genes implicated in these syndromes including AKT1, PIK3CA, and mTOR have widespread expression 5 Vanhaesebroeck B. Stephens L. Hawkins P. PI3K signalling: the path to discovery and understanding. Nat Rev Mol Cell Biol. 2012; 13: 195-203 Crossref PubMed Scopus (649) Google Scholar and, therefore, more widespread organ involvement. These genes function in the mTOR signaling pathway to control cell growth and metabolism." @default.
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• W1891978120 date "2015-11-01" @default.
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• W1891978120 title "Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA" @default.
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• W1891978120 doi "https://doi.org/10.1016/j.jpeds.2015.07.049" @default.
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