Article
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Nature genetics - 24 Jun 2012
Lindhurst Marjorie J, Parker Victoria E R, Payne Felicity, Sapp Julie C, Rudge Simon, Harris Julie, Witkowski Alison M, Zhang Qifeng, Groeneveld Matthijs P, Scott Carol E, Daly Allan, Huson Susan M, Tosi Laura L, Cunningham Michael L, Darling Thomas N, Geer Joseph, Gucev Zoran, Sutton V Reid, Tziotzios Christos, Dixon Adrian K, Helliwell Timothy, O'Rahilly Stephen, Savage David B, Wakelam Michael J O, Barroso Inês, Biesecker Leslie G, Semple Robert K
Abstract excerpt
The phosphatidylinositol 3-kinase (PI3K)-AKT signaling pathway is critical for cellular growth and metabolism. Correspondingly, loss of function of PTEN, a negative regulator of PI3K, or activating mutations in AKT1, AKT2 or AKT3 have been found in distinct disorders featuring overgrowth or hypoglycemia. We performed exome sequencing of DNA from unaffected and affected cells from an individual with an...
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