Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) 
and other related connective tissue disorders. In this study we performed SSCP 
to analyze all 65 exons of the FBN1 gene in 76 patients presenting with 
classical MFS or related phenotypes. We report 7 missense mutations, 3 splice 
site alterations, one indel mutation, one nonsense mutation and two mutations 
causing frameshifts: a 16bp deletion and a single nucleotide insertion. 5 of the 
missense mutations (Y1101C, C1806Y, T1908I, G1919D, C2251R) occur in 
calcium-binding Epidermal Growth Factor-like (EGFcb) domains of exons 26, 43, 46 
and 55, respectively. One missense mutation (V449I) substitutes a valine residue 
in the non-calcium-binding epidermal growth factor like domain (EGFncb) of exon 
11. One missense mutation (G880S) affects the "hybrid" motif in exon 21 by 
replacing glycine to serine. The 3 splice site mutations detected are: IVS1-1G>A 
in intron 1, IVS38-1G>A in intron 38 and IVS46+5G>A in intron 46. C628delinsK 
was identified in exon 15 leading to the substitution of a conserved cysteine 
residue. Furthermore two frameshift mutations were found in exon 15 
(1904-1919del ) and exon 63 (8025insC) leading to premature termination codons 
(PTCs) in exon 17 and 64 respectively. Finally we identified a nonsense mutation 
(R429X) located in the proline rich domain in exon 10 of the FBN1 gene. Y1101C, 
IVS46+5G>A and R429X have been reported before.