Mutations in proteins belonging to PI3K-AKT-mTOR pathway lead to various syndromes (“mTORopathies”) including Bannayan-Riley-Ruvalcaba syndrome (BRRS), tuberous sclerosis, Peutz-Jeghers syndrome characterized by hyperactivation of mTOR-signaling (7). The gene discussed is PIK3CD; the disease is Bannayan-Riley-Ruvalcaba syndrome.