PMS is both one of the most penetrant and one of the most common monogenic causes of autism, and recent studies have shown SHANK3 deletion or mutation in up to 1.7% of individuals with ASD (Moessner et al., 2007; Guilmatre et al., 2009; Qiao et al., 2009; Sykes et al., 2009; Pinto et al., 2010; Rosenfeld et al., 2010; Schaefer et al., 2010; Shen et al., 2010; Bremer et al., 2011; Waga et al., 2011; Gong et al., 2012; Betancur and Buxbaum, 2013). The gene discussed is SHANK3; the disease is autism.