PURPOSE OF REVIEW: Marfan syndrome, the founding member of connective tissue 
disorders, is characterized by involvement of three major systems (skeletal, 
ocular, and cardiovascular) due to alteration in microfibrils. FBN1 at 15q21.1 
was found to cause Marfan syndrome in 1991, and in 2004 TGFBR2 at 3p24.1 was 
newly identified as the Marfan syndrome type II gene. Several studies implied 
that fibrillin-1 and transforming growth factor-beta (TGF-beta) signaling are 
functionally related in extracellular matrix. Identification of TGFBR2 mutations 
in Marfan syndrome type II provided the direct evidence of the relation in 
humans.
RECENT FINDINGS: More than 500 FBN1 mutations have been found in Marfan 
syndrome, tentative genotype - phenotype correlations have emerged, and mouse 
models are providing insight into pathogenic mechanisms. TGFBR2 mutations are 
still limited, however, in 2005 were also reported to cause a new aneurysm 
syndrome. Functional association between fibrillin-1 and TGF-beta signaling in 
extracellular matrix has been presented.
SUMMARY: This review focuses on recent molecular genetics advances in Marfan 
syndrome and overlapping connective tissue disorders. Mutation spectrum of FBN1 
and TGFBR2 in relation to phenotype is presented. Functional relation between 
fibrillin-1 and TGF-beta signaling is discussed. Future prospects in the study 
of Marfan syndrome are presented.