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). Here, AKT1 is linked to Bannayan-Riley-Ruvalcaba syndrome.