We then screened 148 unrelated males with ASD for mutations in exons of SLC7A3. We identified three rare hemizygous variants that altered conserved amino acids in three patients (Fig. 1): c.1289A > G/p.Tyr430Cys was identified in a 10-year-old boy with high-functioning autism and epilepsy, whereas c.1766G > C/p.Ser589Thr and c.1784G > C/p.Ser595Thr were identified in patients with ASD and ID. Here, SLC7A3 is linked to autism.