41. Somatic and mosaic mutations in the PI3-Kinase/Akt1 pathway in overgrowth syndromes

      Overgrowth syndromes are a group of rare disorders characterized by tissue hypertrophy. Some of these syndromes have been attributed to post-zygotic (somatic) mutations in the phosphatidylinositol-3-kinase (PI-3K)/Akt1 pathway that may occur in distinct cell lineages during embryonic development, thus leading to mosaicism of pathogenic mutations in this pathway. We describe three patients with overgrowth syndromes whose diagnosis was confirmed by demonstration of somatic and mosaic mutations in PI3-Kinase catalytic subunit alpha (PIK3CA) and Akt1.
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