title: A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.
abstract: OBJECTIVE
  Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
  
  
  METHODS
  It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was dertermined with an ABI 3100 Genetic Analyzer.
  
  
  RESULTS
  A previously unreported the missense mutation G214S (caused by a 640 A→G heterozygous change) in FBN1 was identified in the Chinese family. The mutation was associated with the disease phenotype in patients, but not detected in their relatives or in the 100 normal controls.
  
  
  CONCLUSIONS
  This is the first report of molecular characterization of FBN1 in the MFS family of Chinese origin. Our results expand the spectrum of FBN1 mutations causing MFS and further confirm the role of FBN1 in the pathogenesis of MFS. Direct sequencing of the mutation in FBN1 may be used for diagnosis of MFS.
authors.affiliation: Department of Ophthalmology, Peking University Third Hospital, Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, P.R. China.
authors.forename: Jiamei
authors.initials: J
authors.lastname: Dong
authors.forename: Juan
authors.initials: J
authors.lastname: Bu
authors.forename: Wei
authors.initials: W
authors.lastname: Du
authors.forename: Yuan
authors.initials: Y
authors.lastname: Li
authors.forename: Yanlei
authors.initials: Y
authors.lastname: Jia
authors.forename: Jianchang
authors.initials: J
authors.lastname: Li
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Meng
authors.forename: Minghui
authors.initials: M
authors.lastname: Yuan
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Peng
authors.forename: Aimin
authors.initials: A
authors.lastname: Zhou
authors.forename: Lejin
authors.initials: L
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005799:Genes, Dominant; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000378:metabolism; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D016366:Open Reading Frames; D010375:Pedigree; D010641:Phenotype; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines