ITPR1 and autism spectrum disorder: The CNV duplications in ITPR1 were shown to be associated with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) (30), and CNVs in genes at the chr3p26 locus, including but not limited to CNTN4, have been associated with ADHD and ASD and shown to impair glutamatergic signaling (31, 32).