Additionally, from a study of 996 ASD families examined with the Illumina 1M BeadChip (15), we identified eight deletions in probands or affected siblings, and a ninth in a father with a diagnosis of Broad Autism Phenotype (BAP) (16,17), all occurring 5’ of PTCHD1 (Fig. 1). A tenth deletion at this upstream locus was identified in a patient from a CNV study of 167 unrelated attention deficit-hyperactivity disorder (ADHD) patients. The ADHD proband with the deletion also has a BAP diagnosis. These deletions were validated with qPCR and exact breakpoints were mapped (table S2). Additional CNV data for these 10 individuals are included in table S3.
