Therefore we can affirm that Xp22 region can play a pivotal role in the pathogenesis of autism, based on the phenotype of the rare patients with large Xp22 deletion as well as on the presence of several genes potentially associated with a behavioral phenotype that fits within the autism spectrum disorder, i.e. NLGN4X, VCX genes [10,13,16-18]. The gene discussed is NLGN4X; the disease is autism.