RPS6KB1 and thanatophoric dysplasia: After stimulation with PMA for 15 min, T cells from children with ASD exhibited higher phosphorylation of ERK, mTOR, p70S6K, GSK3α, and TSC2 compared with T cells from children with TD (p < 0.04; Table 4), indicating increased activity of ERK, mTOR, and p70S6K but a decreased activity of inhibitory signals by TSC2 and GSK3α, suggesting that Akt/mTOR pathway activity may be increased in stimulated ASD T cells (Table 1).