Through whole-genome sequencing, DNMT3A has been identified as a candidate gene marker for autism spectrum disorder (Jiang et al. 2013), and mutations in DNMT3A have been involved in overgrowth syndrome (Tatton-Brown et al. 2014; Tatton-Brown et al. 2018) and acute monocytic leukemia (Yan et al. 2011). The gene discussed is DNMT3A; the disease is acute monocytic leukemia.