Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder 
characterized by manifestations in the cardiovascular, skeletal, ocular, and 
other organ systems. MFS type1 (MFS1) is caused by mutations in the gene 
encoding fibrillin (FBN1). Recently, the transforming growth factor-beta 
receptor-2 gene, TGFBR2, has been shown to be associated with a second type of 
this disorder with typically mild or absent ocular involvement (MFS type 2; 
MFS2). Several point mutations were found in the highly conserved 
serine/threonine kinase domain of TGFBR2. Mutations in both TGFBR1 and TGFBR2 
are associated with Loeys-Dietz aortic aneurysm syndrome (LDS). We searched for 
TGFBR1 and TGFBR2 mutations in 41 unrelated patients fulfilling the diagnostic 
criteria of Ghent nosology or with the tentative diagnosis of Marfan syndrome, 
in whom mutations in the FBN1 coding region were not identified. In TGFBR1, two 
mutations and two polymorphisms were detected. In TGFBR2, five mutations and six 
polymorphisms were identified. Reexamination of patients with a TGFBR1 or TGFBR2 
mutation revealed extensive clinical overlap between patients with MFS1, MFS2, 
and LDS.