Our findings at 7q11.23 point to extraordinary opportunities to illuminate the molecular mechanisms of social development. Duplications in this interval have previously been described in developmental disorders, including ASD (Berg et al., 2007; Van der Aa et al., 2009), though these have been restricted to case reports or series, with the attendant difficulties in controlling for ascertainment bias. The identification of clear association of duplications in this controlled study of ASD is particularly striking given that the reciprocal deletion results in a developmental syndrome characterized in part by an empathic, gregarious, and highly social personality (Pober, 2010). Moreover, several lines of evidence, including atypical deletions (Antonell et al., 2010), mouse models (Fujiwara et al., 2006; Hoogenraad et al., 2002; Meng et al., 2002; Sakurai et al., 2010), and gene expression x phenotype studies (Gao et al., 2010; Korenberg et al., 2000) have already identified CAPGLY domain containing linker protein 2 (CLIP2), LIM domain kinase 1 (LIMK1), General transcription factor II, i (GTF2i), and Syntaxin 1A (STX1A) as the leading candidates among the 22 genes within the region for involvement in
