The notion that the 4 remaining recurrent de novo regions represent true ASD variants is supported by multiple lines of additional evidence. For example, they are among only 8 rare de novo CNVs that overlap with rare transmitted events restricted to probands. Moreover, 2 of the remaining 3 loci, 2p15 and 17q12, have been previously implicated in ASD (Liang et al., 2009; Moreno-De-Luca et al., 2010). In addition, rare 1q21.1 and 15q13.2-13.3 CNVs have been identified in developmental and neuropsychiatric syndromes, with deletions found in ASD (Miller et al., 2009; Shen et al., 2010), schizophrenia (ISC, 2008; Stefansson et al., 2008), idiopathic epilepsy (Helbig et al., 2009), and recurrent duplications reported here. CDH13 has not previously been noted to be a risk variant, but the larger family of proteins has been implicated in ASD pathogenesis through CNV studies (Glessner et al., 2009), homozygosity mapping (Morrow et al., 2008), common variant findings (Wang et al., 2009), and our pathway analysis (Figure 6). The 16p13.2 region contains four genes, the most immediately notable of which are C16orf72, coding for a protein of
