Recently, several human genetics studies have discovered that a de novo Ica1 mutation and copy number variations are associated with autism spectrum disorder and intellectual disability (Salyakina et al., 2011; Gai et al., 2012; Iossifov et al., 2012; Girirajan et al., 2013; Nava et al., 2014). Here, ICA1 is linked to autism spectrum disorder.