Fig. 5

Increased p110δ expression and S6 phosphorylation is associated with autism in an autism multiplex family. a Pedigree of the multiplex family of patient A4. Black indicates autism diagnosis, and black and white indicates “not quite autism” (modified from the AGRE catalogue). b p110δ-specific Western blot analysis of the parents and three siblings of A4; example Western blot is shown on the left and quantification on the right. One-way ANOVA analysis shows a significant difference (n = 6, F(5,30) = 3.14, p = 0.021; p values of post hoc analyses comparing all family members to the healthy sibling shown in Additional file 4: Table S2a). c Similarly, phospho-S6-specific ELISAs suggested increased S6 phosphorylation in the autistic family members (n = 5, one-way ANOVA, F(5,24) = 3.77, p = 0.012; p values of post hoc analyses comparing all family members to the healthy sibling shown in Additional file 4: Table S2b). d Combining p110δ expression data from unaffected (A4-F, A4-M, A4-S) and autistic (A4, A4-B1, A4-B2) family members shows a significant increase in p110δ expression in the family members diagnosed with autism compared to their unaffected relatives (paired t test, n = 6, t(5) = 4.99, p = 0.004). e Combining phospho-S6 data from unaffected and autistic family members, respectively, again shows significantly increased S6 phosphorylation in cell lines from family members with autism (n = 5, paired t test, t(4) = 4.81, p = 0.009). Shown are means + SEM