TBX5 and coronary artery disorder: Although CHD related mutations are dispersed across all the coding exons of TBX5 gene, the most of them are positioned within the highly evolutionary conserved DNA binding motif (T-box or T-domain), spanning from amino acids 53–241.10,11 Loss-of function mutations in T-box region on the human chromosome 12 (12q24.1) and haploinsufficiency of TBX5 are the cause of CHD.