In other studies, systematic mutation screening of genes initially identified through chromosomal, CNV, and/or resequencing analysis has led to the discovery of rare autism-associated variants/mutations in several genes, including NLGN3 and NLGN4 at Xp22.3 [31], NRXN1 at 2p16.3 [15], [32], SHANK3 at 22q13 [33]–[35], and CNTNAP2 at 7q35 [36]–[38]. The gene discussed is SHANK3; the disease is autism.