In the most recent Autism Sequencing Consortium study,104 we identified three de novo copy number variants disrupting POU3F2 in individuals with ASD (Fig. 8D; Supplementary Table 17), further supporting prior evidence that heterozygous deletions encompassing POU3F2 are associated with neurodevelopmental disorders.20 In the latest release of whole-exome sequencing from the Simons Powering Autism Research (SPARK) consortium,105 we identified two de novo missense variants in POU3F2 in individuals with ASD (Fig. 8E). This evidence concerns the gene POU3F2 and autism.