Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), 
and related connective tissue disorders. The disease spectrum is wide and while 
many genotype-phenotype correlations have been reported, few have been 
consistent. In this study FBN1 was analyzed in 113 patients with MFS or 
Marfan-like features. Fifty-three mutations were identified in 52 individuals, 
41 of which were novel. The mutations comprised 26 missense, 11 splice site, 7 
frameshift, 6 nonsense, 1 in-frame deletion, and 2 whole exon deletions. In 
common with previous studies, genotype-phenotype analysis showed that a FBN1 
mutation was more likely to be identified in patients fulfilling Ghent criteria 
(P = 0.005) and in those who had ectopia lentis (EL) (P < 0.0001). Other 
previously reported genotype-phenotype correlations were also considered and a 
new inverse association between a mutation in exons 59-65, and EL emerged (P = 
0.002).