An N-terminal isoform of AUTS2 (AUTS2-202; ENST00000403018.2), containing an alternate exon 5, which encodes a premature stop codon, is thought to be functional and has been shown to be upregulated in a patient with a duplication within intron 4 of AUTS2, resulting in autism, intellectual disability and epilepsy [17]. Here, AUTS2 is linked to autism.