Tabet et al. (2012) reported three children of a family with autism, including two monozygotic twins, carrying different rearrangements on the chromosome 16p11.2. Notably, our preliminary research using Affymetrix CytoScan HD platform had demonstrated CNV in 16p11.2 in Han Chinese individuals with ASD (Gazzellone et al., 2014), which suggested that the epigenetic factors of SH2B1 located in 16p11.2 was also involved in ASD. This evidence concerns the gene SH2B1 and autism.