There is strong indication that SHANK3 gene mutations or variations are associated with increased autism risks, SHANK3 point mutations, truncations, and disruption by chromosome translocation have been all reported in ASD cases (Durand et al., 2007; Gauthier et al., 2009; Sykes et al., 2009; Peca et al., 2011; Boccuto et al., 2013). The gene discussed is SHANK3; the disease is autism.