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Scientific article
English

A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis

Contributors

Robert-Ebadi, Helia; Le Querrec, Agnès; De Moerloose, Philippe; Gandon-Laloum, Sylvie; Borel Derlon, Annie; Neerman Arbez, Marguerite

Published in

Blood coagulation & fibrinolysis, vol. 19, no. 7, p. 697-699

Publication date

2008

Abstract

A 5-year-old boy was hospitalized for acute appendicitis. Routine preoperative hemostasis screening resulted in a diagnosis of dysfibrinogenemia. Fifteen days after the operation the patient was re-hospitalized for deep vein thrombosis. Genetic analysis of the fibrinogen genes revealed a novel missense mutation in exon 8 of fibrinogen gamma-chain gene (FGG): c.1031A>T, p.Asp344Val (p.Asp318Val in the mature chain) in heterozygosity. Interestingly, this same residue in the fibrinogen gamma chain was previously found to be mutated to a glycine (fibrinogen Giessen IV) in another young dysfibrinogenemia patient with thrombosis. The side chain of Asp344 (or Asp318) in the gamma chain is directly involved in binding to calcium. Abnormal polymerization of fibrin in fibrinogen Giessen IV and in the novel fibrinogen Caen described here could lead to the formation of abnormal clots leading to thrombosis, in addition to abnormal thrombin binding and decreased fibrinolysis.

Keywords

  • Afibrinogenemia/etiology/genetics
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Child, Preschool
  • Fibrinogen/genetics
  • Fibrinogens, Abnormal/genetics
  • Humans
  • Male
  • Mutation, Missense
  • Venous Thrombosis/complications/genetics

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

ROBERT-EBADI, Helia et al. A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis. In: Blood coagulation & fibrinolysis, 2008, vol. 19, n° 7, p. 697–699. doi: 10.1097/MBC.0b013e3282f544ee

Main files (1)

Article (Accepted version)

Identifiers

Additional URL for this publication

http://ovidsp.ovid.com/ovidweb.cgi?T=JS&NEWS=N&PAGE=fulltext&AN=00001721-200810000-00015&LSLINK=80&D=ovft

Journal ISSN

0957-5235
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Technical informations

Creation

06/04/2009 08:53:00

First validation

06/04/2009 08:53:00

Update

14/03/2023 15:04:30

Status update

14/03/2023 15:04:30

Last indexation

16/12/2024 14:51:29
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