Further to the initial CNV-screening ASD cohort (Marshall et al, 2008), we have now analyzed CNV screening data for a cohort of ID subjects, as well as cohorts of unaffected subjects, and, where CNVs have been identified at the PTCHD1 locus, we have validated and characterized the CNVs and their inheritance in the families. This screening identified a second deletion at PTCHD1, segregating among males in a family with ID. This finding also prompted screening of additional ASD cohorts for CNVs at the PTCHD1 locus. We also screened a proportion of the cases and controls for coding mutations within PTCHD1 (see table S5 for details on cohorts studied). Preliminary functional evidence for the PTCHD1 protein is consistent with a role in Hh signaling.
