Only Pang et al. reported variants (g.59477201C>T, g.59477347G>A, g.59477353delG, and g.59477371G>A) located at the TBX2 gene promoter in a cohort of 324 patients with ventricular septal defects, and the variants reduced the transcriptional activities of the TBX2 gene promoter [19]. Here, TBX2 is linked to ventricular septal defect.