TBC1D32, the gene associated with the second most DM promoter, is implicated in the pathogenesis of ciliopathies in humans (84), which are caused by defects in the human primary cilium known to play a role in establishing left-right asymmetry during heart development (85), to restrain ECM production during physiological aortic valve development and to play a role in the etiology of BAV in humans (86). The gene discussed is TBC1D32; the disease is ciliopathy.