There are also reports of TBX1 cis-regulatory elements being involved in cardiac development [32, 33, 51, 62], such as a mutation of the Fox-binding site upstream of Tbx1 abolishing Tbx1 expression in the pharyngeal endoderm [32, 33] and heterozygous variants NC_000022.11:g.19756055C > T and NC_000022.11: g.19756212A > C upstream of the TBX1 TSS in VSD patients significantly decreasing the activity of the TBX1 gene promoter [51]. This evidence concerns the gene TBX1 and ventricular septal defect.