In the same study, screening VPS13B gene in 612 families from the Simons Simplex Collection, one affected male child with ASD was found to be compound heterozygous for two different mutations in VPS13B (p.W963*/p.G2704R), and a second, unrelated male child affected with autism was compound heterozygous for two rare point mutations in VPS13B, p.S3303R and p.A3691T, both altering highly conserved residues of VPS13B [32]. This evidence concerns the gene VPS13B and autism.