Thus, the three CITED2 variants identified within the 5′-untranslated region (UTR) of the exon 1 and 3′-UTR of the exon 2, associated with ASD, VSD, and TOF [125], and another study associating decreased CITED2 expression to abnormal hypermethylation of CpG islands on its promoter in children with CHD [117] may be a consequence of CITED2 haploinsufficiency. The gene discussed is CITED2; the disease is atrial septal defect.