Fibrinogen Seoul (FGG Ala341Asp): a novel mutation associated with hypodysfibrinogenemia

Clin Appl Thromb Hemost. 2006 Jul;12(3):338-43. doi: 10.1177/1076029606291383.

Abstract

Dysfibrinogenemia is a coagulation disorder caused by a variety of structural abnormalities in the fibrinogen molecule that result in fibrinogen function. The molecular basis of hypodysfibrinogenemia was investigated in a 66-year-old woman with peripheral artery obstructive disease and in her family members. Plasma level of functional fibrinogen determined using the Clauss method was lower (75 mg/dL; normal, 140-460 mg/dL) than that measured with immunologic nephelometric assay (137 mg/dL; normal, 180-400 mg/dL). Similar results were also observed in two family members through two generations. DNA was extracted from whole blood, and the coding regions and intron/exon boundaries of gamma chain gene (FGG) were amplified. A novel (Fibrinogen Seoul) heterozygous FGG mutation (GCT->GAT, Ala341Asp) was identified in all three affected family members. Thrombin-catalyzed polymerization was found to be defective on the analysis of purified fibinogen from the propositus. Molecular modeling also showed a conformational change of fibrinogen structure.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Arterial Occlusive Diseases
  • Blood Coagulation Disorders / genetics*
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Fibrinogens, Abnormal / chemistry
  • Fibrinogens, Abnormal / genetics*
  • Humans
  • Mutation, Missense*
  • Peripheral Vascular Diseases
  • Protein Conformation

Substances

  • Fibrinogens, Abnormal