Fig. 1

a Pathogenic and likely pathogenic SHANK3 mutations. The mutations described in this study are shown in the upper panel and those reported in the literature or in ClinVar in the lower panel. Loss-of-function mutations are indicated in black and missense mutations in blue. Recurrent mutations are indicated in bold. Protein domains are from UniProt; the homer and cortactin binding sites are indicated as previously reported [9]. b Photographs of individuals with mutations in SHANK3, showing mild dysmorphic features