The base deletion mutation was found to be located in the second helix of Nkx2.5 in 58 patients with CHD, which seriously affects the way and degree of DNA sequence binding to protein, leading to the uncontrolled transcription process, abnormal expression of downstream genes, and structural defects of related proteins, which lead to the occurrence of CHD (106). Here, NKX2-5 is linked to coronary artery disorder.