Up to now, about 3,000 different FBN1 mutations for MFS have been included in the UMD-FBN1 database.15 Although so many FBN1 mutations have been reported to be responsible for MFS, the exact phenotype-genotype correlation in MFS is still unclear because of the inter- and intra-family clinical variability. The gene discussed is FBN1; the disease is Marfan syndrome.