Micale Lucia et al. then used minigene and cycloheximide experiments to show that some selected frameshift mutant alleles (c.1161delC, c.838_839insG, c.1195delG) are the substrates of nonsense-mediated mRNA decay (NMD), which confirmed that the functional haploinsufficiency of the ELN gene is the main pathological mechanism of supravalvular aortic stenosis. Here, ELN is linked to supravalvular aortic stenosis.