Approximately 90% of MFS cases are caused by mutations in the FBN1 gene (15q21.1) [2]; whereas a second MFS causative gene, the TGFBR2 (3p22) gene, was identified in a French family with MFS originally found not to be associated with FBN1 in 2004 [3]. The gene discussed is TGFBR2; the disease is Marfan syndrome.