The aim of this study was to establish a national database of mutations in the 
fibrillin-1 (FBN1) gene that cause Marfan syndrome (MFS) in the Taiwanese 
population. In this study, we screened 294 patients from 157 families for the 
presence of FBN1 mutations using polymerase chain reaction/ denaturing high 
performance liquid chromatography (PCR/DHPLC). We identified 56 mutations in 62 
of the 157 (40%) families including 49 single-base substitutions (36 missense 
mutations, seven nonsense mutations, and six splicing sites), one small 
insertion, four small deletions, one small indel (insertion and deletion), and 
one exonic deletion (Exon 36). When family history was taken into consideration, 
the mutation detection rate rose to 91% (29 of 32). We further investigated the 
phenotypic data and found that one third (47 of 157) of the families fit the 
Ghent criteria for MFS. Based on that data, the mutation rate was 98% (46/47). 
That finding implies that family history and the Ghent criteria play a more 
important role than clinical manifestations in establishing a clinical diagnosis 
of Marfan syndrome. Among the 56 mutations found in this study, 40 (71%) have 
not been registered in the Human Gene Mutation Database (HGMD) or in the 
Universal Mutation Database (UMD). This is the first study of the mutation 
spectrum of MFS in a cohort of patients in Taiwan. The database is expected to 
considerably improve genetic counseling for and medical care of MFS families.