FBN1 mutations have been identified in patients affected by type I fibrillinopathies, which include MFS, neonatal MFS (nMFS), MASS syndrome (mitral valve, aorta, skeleton, and skin; OMIM 604308), isolated EL, Shprintzen-Goldberg syndrome (OMIM 182212), isolated skeletal features of MFS, and ascending aortic aneurysm [2-10]. The gene discussed is FBN1; the disease is Marfan syndrome.