Download PDF
Thromb Haemost 2010; 103(03): 677-679
DOI: 10.1160/TH09-06-0390
Letters to the Editor
Schattauer GmbH

Characterisation of a novel nonsense mutation in FGG (Fibrinogen Poznan) causing hypofibrinogenaemia with a mild bleeding tendency

Krystyna Zawilska   1
1   Department of Hematology, Karol Marcinkowski Medical University, Poznan, Poland
,
Anetta Undas   1
2   Institute of Cardiology, Jagiellonian University School of Medicine, Krakow, Poland
,
Richard J. Fish
3   Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland
,
Lucyna Molendowicz-Portala
1   Department of Hematology, Karol Marcinkowski Medical University, Poznan, Poland
,
Philippe de Moerloose
4   Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
,
Marguerite Neerman-Arbez
3   Department of Genetic Medicine and Development, University Medical Centre, Geneva, Switzerland
4   Division of Angiology and Haemostasis, University Hospital, Geneva, Switzerland
› Author Affiliations
Further Information

Publication History

Received: 22 June 2009

Accepted after minor revision: 22 February 2009

Publication Date:
22 November 2017 (online)

    Permissions and Reprints

 

1 Contributed equally to this study.


 

  • References

  • 1 Neerman-Arbez M, de Moerloose P. Mutations in the Fibrinogen gene Cluster Accounting for Congenital Afibrinogenemia: an Update and Report of Ten Novel Mutations. Hum Mut 2007; 28: 540-553.
    CrossrefPubMedGoogle Scholar
  • 2 Magzhal GJ, Brennan SO, Homer VM. et al. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004; 61: 1427-1438.
    PubMedGoogle Scholar
  • 3 Vu D, Neerman-Arbez M. Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins. J Thromb Haemost 2007; 5 (Suppl. 01) 125-131.
    CrossrefPubMedGoogle Scholar
  • 4 Neerman-Arbez M, de Moerloose P, Honsberger A. et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet 2001; 108: 237-240.
    CrossrefPubMedGoogle Scholar
  • 5 Davis RL, Brennan SO. Fibrinogen Tologa Bay: a novel γAla341Val mutation causing hypofibrinogenaemia. Thromb Haemost 2007; 98: 1136-1138.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 6 Okumura N, Terasawa F, Tanaka H. et al. Analysis of fibrinogen gamma-chain truncations shows the C-terminus, particularly gammaIle387, is essential for assembly and secretion of this multichain protein. Blood 2002; 99: 3654-3660.
    CrossrefPubMedGoogle Scholar
  • 7 Iida H, Ishii E, Nakahara M. et al. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene. Thromb Haemost 2001; 84: 49-53.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 8 Neerman-Arbez M, Germanos-Haddad M, Tzanidakis K. et al. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood 2004; 104: 3618-3623.
    CrossrefPubMedGoogle Scholar
  • 9 Vu D, de Moerloose P, Batorova A. et al. Hypofibrinogenemia due to a novel FGG missense mutation (W253C) in the gamma-chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42-e57
    PubMedGoogle Scholar
  • 10 Serre D, Gurd S, Ge B. et al. Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS Genet. 2008; 4: e1000006.
    CrossrefPubMedGoogle Scholar