These mutations include ASD-associated CNVs such as 15q11q13 deletion (Angelman syndrome) [121] and duplication (Dup15q syndrome) [122], 22q11.2 deletion (DiGeorge syndrome) [123, 124], 16p11.2 deletion and duplication [125], and 15q13.3 deletion [126], as well as single-gene mutations including SHANK3 [127–130], CHD8 [131, 132], NRXN1 [133–137], NLGN4 [138], EHMT1 (Kleefstra syndrome) [139], PTCHD1-AS [140], UBE3A (Angelman’s syndrome) [141], and CACNA1C (Timothy syndrome) [142] (summarized in Table 1). The gene discussed is CHD8; the disease is Angelman syndrome.