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Chunk #60 — Discussion

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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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 unknown function, recently identified in a schizophrenia CNV study (Levinson et al., 2011), and Ubiquitin Specific Peptidase 7 (USP7), which has been shown to have a role in oxidative stress response, histone modification and regulation of chromatin remodeling (Khoronenkova et al., 2010). Both would represent novel ASD risk genes, however for the latter, these biological processes, and the ubiquitin pathway in particular, have been previously implicated in ASD pathogenesis (Glessner et al., 2009).