title: [Analysis of a family with congenital dysfibrinogenemia caused by an Arg275His mutation in the gamma chain of fibrinogen].
abstract: OBJECTIVE
  To explore the clinical phenotype of a family affected with congenital dysfibrinogenemia and potential mutations underlying the disease.
  
  
  METHODS
  Coagulation testing and hepatorenal function testing were conducted on 18 individuals from three generations. Plasma fibrinogen was extracted and analyzed with SDS-PAGE electrophoresis. All of the exons and flanking sequences of fibrinogen FGA, FGB, FGG genes were analyzed by PCR, and the products were subjected to Sanger sequencing.
  
  
  RESULTS
  Hepatorenal function, prothrombin time and activated partial thromboplastin time of the proband were all normal. However, his thrombin time was significantly prolonged. Fibrinogen activity was decreased, while the concentration of antigen was in the normal range. The results of his mother, brother, and nephew were similar. DNA sequencing has confirmed that the proband, his mother, brother, and nephew have all carried a g.5877G>A mutation in the exon 8 of the FGG gene, which resulted in replacement of arginine (Arg) by histidine (His) at position 275.
  
  
  CONCLUSIONS
  The Arg275His mutation of the fibrinogen gamma chain probably underlies the pathogenesis of congenital dysfibrinogenemia in this family.
authors.affiliation: Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, China. fqlin1998@163.com.
authors.forename: Jie
authors.initials: J
authors.lastname: Yan
authors.forename: Donghong
authors.initials: D
authors.lastname: Deng
authors.forename: Xuelian
authors.initials: X
authors.lastname: Deng
authors.forename: Meiling
authors.initials: M
authors.lastname: Luo
authors.forename: Peng
authors.initials: P
authors.lastname: Cheng
authors.forename: Lin
authors.initials: L
authors.lastname: Liao
authors.forename: Faquan
authors.initials: F
authors.lastname: Lin
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics* / Q000378:metabolism; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005260:Female; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation
chemical_list: C027539:fibrinopeptides gamma; D005340:Fibrinogen