HERC2 and autism spectrum disorder: For example, a neurodevelopmental delay featuring Angelman syndrome and autism spectrum disorder has been attributed to a homozygous missense mutation [NM_004667.5:c.1781C>T (p.Pro594Leu)] in the HERC2 gene (Harlalka et al., 2013; Puffenberger et al., 2012) or to a homozygous 286‐kb deletion between the contiguous genes HERC2 and OCA2 (chr15: g.