The best characterized genes include FBN1 [Marfan syndrome (MFS)], TGFBR1 and TGFBR2 [Loeys-Dietz syndrome (LDS)], SMAD3 [aneurysm-osteoarthritis syndrome (AOS)], and ACTA2 [Aortic and Cerebral Aneurysm (ACA)]. The gene discussed is TGFBR1; the disease is Marfan syndrome.