After the initial description by Beunders et al., a meta-analysis using the data of 31 patients with AUTS2 syndrome obtained from seven studies, in addition to five newly identified clinical cases, supported that the patients with ADHD and/or ASDs, who carry mutations at 3′ end of the AUTS2 locus showed higher ASSS values compared with individuals with AUTS2 aberrations at the 5′ end of the locus [35]. Here, AUTS2 is linked to autism spectrum disorder due to AUTS2 deficiency.