SHANK3 and autism: For autism there is evidence for a pathogenic effect of missense mutations in a number of genes, including NLGN3 (MIM 300336) and NLGN4 (MIM 300427) [Jamain et al., 2003], NRXN1 (MIM 600565) [Kim et al., 2008], SHANK3 (MIM 606230) [Durand et al., 2007], SHANK2 (MIM 603290) [Berkel et al., 2010], and CNTNAP2 (MIM 604569) [Bakkaloglu et al., 2008].