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GENATLAS PHENOTYPE
last update : 01-06-2009
Symbol CAFG
Location 4q32.1
Name congenital afibrinogenemia
Other name(s)
  • including hypofibrinogenemia and qualitative fibrinogen anomalies dysfibrogenemia and hypodysfibrogenemia (OMIM 134820)
  • Corresponding gene FGA , FGB , FGG
    Main clinical features bleeding manifestations varying from mild to severe.
    Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder hematology
    Type disease
    Gene product
    Name fibrinogen is a hexamer composed of two sets of three polypeptides (Aalpha, Bbeta, and gamma). Each polypeptide is encoded by a distinct gene, FGA, FGB, and FGG, all three clustered in a region of 50 kb on 4q31
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   over-expression common recurrent mutation at the donor splice site of FGA intron 4 (IVS4+1G>T)
    nonsense   truncated protein 86p.100 of afibrinogenemia alleles analyzed to date have truncating mutations of FGA
    various types     in FGA, FGB or FGG genes
    Remark(s) . hereditary fibrinogen disorders include type I deficiencies (afibrinogenemia and hypofibrinogenemia, i.e. quantitative defects), with low or unmeasurable levels of immunoreactive protein; and type II deficiencies (dysfibrinogenemia and hypodysfibrinogenemia, i.e. qualitative defects), showing normal or altered antigen levels associated with reduced coagulant activity
  • a deep intronic mutation creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment (Davis 2009)