Moreover, our group next identified for the first time pathogenetic FBN1 gene (fibrillin 1, 15q21.1, OMIM*134797) mutations in patients with BAV and aortic dilation/aneurysm in whom MFS and other more severe type 1 fibrillinopathies were clinically excluded (Pepe et al., 2014). Here, FBN1 is linked to Marfan syndrome.