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

• Published in: Pediatrics international Vol. 42; no. 5; pp. 488 - 491
• Main Authors: Oh, Myung Ryurl, Kim, Jung Sim, Beck, Nam Seon, Yoo, Han Wook, Lee, Heung Jae, Kohsaka, Takao, Jin, Dong Kyu
• Format: Journal Article
• Language: English
• Published: Melbourne, Australia Blackwell Science Pty 01.10.2000
• Subjects: Adolescent; Adult; Child; Child, Preschool; fibrillin; Fibrillin-1; Fibrillins; Frameshift Mutation; genotype; Humans; Korea; Male; Marfan syndrome; Marfan Syndrome - genetics; Microfilament Proteins - genetics; Middle Aged; mutation; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1046/j.1442-200x.2000.01268.x

Background: Mutations in the FBN1 gene, encoding fibrillin‐1, result in Marfan syndrome (MFS). According to previous reports, the mutations in FBN1 share certain characteristics in each family with variable penetrance and overlapping symptoms, even in the same genotype. In the present study, we report six novel mutations and evaluate the clinical significance of these nucleotide 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, single‐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, L1421F, C1895R and S2662P. Conclusions : These results suggest that many different mutations are responsible for MFS in the Korean population.