title: Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome.
abstract: 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.
authors.affiliation: Center for Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea.
authors.forename: M R
authors.initials: MR
authors.lastname: Oh
authors.forename: J S
authors.initials: JS
authors.lastname: Kim
authors.forename: N S
authors.initials: NS
authors.lastname: Beck
authors.forename: H W
authors.initials: HW
authors.lastname: Yoo
authors.forename: H J
authors.initials: HJ
authors.lastname: Lee
authors.forename: T
authors.initials: T
authors.lastname: Kohsaka
authors.forename: D K
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D000071838:Fibrillin-1; D000071837:Fibrillins; D016368:Frameshift Mutation; D006801:Humans; D007723:Korea; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines