Moreover, identification of disease-specific signaling defects in skin cells have potential as biomarkers for diagnostic purposes, much as is now routine in other organelle diseases, such as Tay–Sachs and Niemann–Pick diseases,43, 44 and through which novel therapies for these diseases have emerged.45 Our results demonstrate that IP3-mediated Ca2+ signals are significantly depressed in fibroblasts from both FXS and TS patients and, by resolving signals at the single-channel level, we provide evidence of fundamental defects in IP3R channel activity in ASD. This evidence concerns the gene ITPR1 and Timothy syndrome.