In humans, loss of function of NSD1 gene has been linked to Sotos syndrome 1 (SOTOS1; OMIM 117550) (Kurotaki et al., 2002; Saugier-Veber et al., 2007), whereas haploinsufficiency of NSD1 has been linked ASD (Satterstrom et al., 2020). This evidence concerns the gene NSD1 and Down syndrome.