A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream

Blood Coagul Fibrinolysis. 2009 Jul;20(5):385-7. doi: 10.1097/MBC.0b013e328329f2a0.

Abstract

Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen and bleeding symptoms. Many causative mutations have been described to date in all three fibrinogen genes, most of them in the fibrinogen A alpha-chain gene (FGA), but also in the fibrinogen B beta-chain gene (FGB) and the fibrinogen gamma-chain gene (FGG). We report here a novel frameshift mutation (p.Glu262AspfsX158) in FGA exon 5 predicted to lead to a truncated polypeptide with an exceptionally long stretch of abnormal residues identified in homozygosity in a patient with congenital afibrinogenemia. Interestingly, five other frameshift mutations predicted to truncate at the same stop codon have already been described in FGA exon 5.

Publication types

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

MeSH terms

  • Afibrinogenemia / genetics*
  • Codon, Nonsense / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Frameshift Mutation*
  • Hemorrhage / etiology
  • Homozygote
  • Humans
  • Infant, Newborn
  • Italy
  • Morocco / ethnology
  • Sequence Deletion

Substances

  • Codon, Nonsense