title: [Screening of FBN1 gene mutations in a family with Marfan syndrome].
abstract: OBJECTIVE
  To identify FBN1 gene mutations in a Chinese family with Marfan syndrome.
  
  
  METHODS
  Four affected and two unaffected individuals in the family were recruited after informed consent. Five ml blood samples were drawn from each family member and genomic DNA was extracted. Mutations were detected by directly sequencing to the whole coding region and exon-intron boundaries of FBN1 gene. Polyphen program was used to predict the functional and structural changes of the mutant protein.
  
  
  RESULTS
  We found all four affected individuals carried FBN1gene mutations, c.2261A > G (p.Y754C), in exon18 by sequence analysis, while two unaffected family members and 100 normal controls did not have this mutation. A PSIC score of 2.6 was acquired by Polyphen program analysis.
  
  
  CONCLUSIONS
  Our study supports that FBN1 gene mutation, c.2261A > G (p.Y754C), is the underlying molecular pathogenesis of this family with Marfan syndrome. This mutation is identified for the first time in Chinese population.
authors.affiliation: Tianjin Eye Hospital, Tianjin 300020, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Hao
authors.forename: Xin
authors.initials: X
authors.lastname: Tang
authors.forename: Hui
authors.initials: H
authors.lastname: Song
authors.forename: Li-ming
authors.initials: LM
authors.lastname: Wang
authors.forename: Yu-chuan
authors.initials: YC
authors.lastname: Wang
authors.forename: Ming
authors.initials: M
authors.lastname: Ying
authors.forename: Rui-fang
authors.initials: RF
authors.lastname: Han
authors.forename: Ning-dong
authors.initials: ND
authors.lastname: Li
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines