Six novel mutations of the fibrillin-1 gene in Korean patients with Marfansyndrome

Background: Mutations in the FBN1 gene, encoding fibrillin-1, result in Mar fan syndrome (MFS). According to previous reports, the mutations in FBN1 sh are certain characteristics in each family with variable penetrance and ove rlapping symptoms, even in the same genotype. In the present study, we repo rt six novel mutations and evaluate the clinical significance of these nucl eotide changes. Methods: To screen for nucleotide changes in all 65 exons of the FBN1 gene in 38 unrelated Korean patients, we performed polymerase chain reaction, si ngle-strand conformational polymorphism (SSCP) and sequencing for the shift of the band in SSCP. Results: We identified six mutations: a 2253 del 7 b.p., N1043S, C1254S, L1 421F, C1895R and S2662P. Conclusions: These results suggest that many different mutations are respon sible for MFS in the Korean population.