Given that various neurodevelopmental disorders have previously been associated with large, rare, recurrent CNVs in specific regions of the genome4, we examined 47 known, pathogenic neurodevelopmental loci for an excess of large, rare CNVs in OCD/TS cases compared to controls (Tables 2, 3, S3, S9; Tables S3 and S9 are available online). We found a 3.3-fold, trend-level increase in large deletions overlapping these loci for patients with TS/OCD (p=.09; Table 2). In contrast, there was no enrichment of duplication events (patient/control ratio 1.16, p=0.46) and no difference in overall CNV size within these regions (p=.31).
