In a recent analysis of de novo, inherited and case–control mutations identified from exome sequence of 3871 autism cases and 9937 ancestry-matched or parental controls, CACNA2D3 was implicated as a risk gene following the identification of two de novo loss of function mutations in cases and none in controls (false discovery rate <0.05)(De Rubeis et al., 2014). The gene discussed is CACNA2D3; the disease is autism.