De novo mutations in RHEB increase soma size and headsize, phenotypes that can be rescued by rapamycin. a Representative confocal images of hippocampal neurons transfected with control vector, RHEB-WT, RHEBp.P37L or RHEBp.S68P. b Summary bar graph of soma size measured for each condition and normalized to the control vector. c Summary bar graph of soma size measured with and without rapamycin. Data are presented as mean ± SEM. Numbers depicted in the bar graph in b represent the number of independent cultures/total number of cells analyzed and in c number of cells analysed. Statistical significance was assessed by one-way ANOVA followed by Tukey’s post hoc test (*p < 0.01). d Dorsal view of 5 dpf control and overexpressant zebrafish larvae. For each experiment, embryos were injected with either WT or mutant RHEB human mRNA message. The area between the eyes was measured for every embryo, to produce a quantitative score. e Bar graph showing the quantification of the headsize phenotype in control embryos and embryos injected with either WT or mutant human RHEB with and without rapamycin. The graph represents cumulative plotted experiments across three biological replicas. Statistical analyses were performed by Student’s t-test

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