The Fibrillin-1 gene (FBN1; chromosome 15q21.1) encodes a major glycoprotein 
component of the extracellular matrix. Mutations in FBN1, TGFBR1, TGFBR2 are 
known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder. In the 
present study, we describe five novel missense FBN1 mutations in five Marfan 
patients that have the peculiarity to activate two contemporary mutational 
mechanisms: a missense mutation and exon skipping.