Analysis of the study cohort identified four male subjects with Fragile X syndrome in three families (the repeat length exceeded 200 CGG repeats for all cases), three female subjects with known pathogenic variants in MECP2 (Rett syndrome), and one subject with Tuberous Sclerosis caused by c.5024 C>T/p.Pro1675Leu known pathogenic variant in TSC2. Next, we investigated the contribution of CNVs to ASD etiology in our cohort using SNP genotyping arrays to identify pathogenic CNVs related to ASD, as shown in Figure 1. The gene discussed is TSC2; the disease is atypical Rett syndrome.