Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited 
connective tissue disorder with autosomal dominant transmission. Major clinical 
manifestations affect cardiovascular and skeletal apparatuses and ocular and 
central nervous systems. We analyzed FBN1 gene in 99 patients referred to our 
Center for Marfan Syndrome and Related Disorders (University of Florence, 
Florence, Italy): 85 were affected by MFS and 14 by other fibrillinopathies type 
I. We identified mutations in 80 patients. Among the 77 different mutational 
events, 46 had not been previously reported. They are represented by 49 missense 
(61%), 1 silent (1%), 13 nonsense (16%), 6 donor splice site mutations (8%), 8 
small deletions (10%), and 3 small duplications (4%). The majority of missense 
mutations were within the calcium-binding epidermal growth factor-like domains. 
We found preferential associations between The Cys-missense mutations and 
ectopia lentis and premature termination codon mutations and skeletal 
manifestations. In contrast to what reported in literature, the cardiovascular 
system is severely affected also in patients carrying mutations in exons 1-10 
and 59-65. In conclusion, we were able to detect FBN1 mutations in 88% of 
patients with MFS and in 36% of patients with other fibrillinopathies type I, 
confirming that FBN1 mutations are good predictors of classic MFS.