Chunk #41 — Results — Analysis of rare transmitted CNVs in the SSC — Transmitted autosomal and X chromosome CNVs overlap with previously reported ASD loci
We next examined all rare CNVs in the SSC in light of previously reported findings, comparing our data to the list of ASD regions included in the recent AGP analysis (Pinto et al., 2010). We also considered recent common variant findings, including SEMA5A (Weiss et al., 2009), MACROD2 (Anney et al., 2010), CDH9 and CDH10 (Wang et al., 2009), the MET oncogene (Campbell et al., 2006), EN2 (Gharani et al., 2004), and selected schizophrenia loci (ISC, 2008; McCarthy et al., 2009; Millar et al., 2000; Stefansson et al., 2008; Walsh et al., 2008; Xu et al., 2008) (Table 3). We identified multiple regions in which rare transmitted and/or rare de novo events corresponded to previously characterized loci in both ASD and schizophrenia.
