Pathogenic variants of FBN1 usually cause the phenotype of Marfan syndrome (MFS) (Table 1) (Pyeritz 2000; Robinson and Godfrey 2000; Collod-Beroud et al. 2003; Faivre et al. 2007; Faivre et al. 2009; Collod-Beroud et al. 2014), the most common fibrillinopathy. The gene discussed is FBN1; the disease is Marfan syndrome.