For some of the genes we identified in 22q11.2DS-CTDs, there were between 5 and 17 CHD cases with mutations among 2391 sporadic CHD trios (CHD7 [n = 15], HLTF [n = 5], KMT2D [n = 17] and NSD1 [n = 6]), but for others were one to three subjects affected (DNMT3A [n = 1], BRPF3 [n = 1], EP400 [n = 1], KAT6A [n = 2], KMT2C [n = 3], KMT2E [n = 1], SMAD4 [n = 1] and TRRAP [n = 1])7. This evidence concerns the gene SMAD4 and coronary artery disorder.