Section 12
Chapter 11,367

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

Oh, M.R.; Kim, J.S.; Beck, N.S.; Yoo, H.W.; Lee, H.J.; Kohsaka, T.; Jin, D.K.

Pediatrics International Official Journal of the Japan Pediatric Society 42(5): 488-491


ISSN/ISBN: 1328-8067
PMID: 11059536
DOI: 10.1046/j.1442-200x.2000.01268.x
Accession: 011366408

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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.

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