Given that de novo loss-of-function single nucleotide variants (SNVs) or insertion/deletion (indel) variants are significantly more common in individuals with ASD than in neurotypical matched controls [9], we wondered whether newly identified sequence variants of the MAGEL2 gene might also be detectable in the broader autism phenotype represented by a cohort of adults with high functioning autism (HFA). Here, MAGEL2 is linked to autism.