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Journal of Thrombosis and Thrombolysis
Published in: Journal of Thrombosis and Thrombolysis 1/2020

01-07-2020 | Letter to the Editor

Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop)

Authors: Tomas Simurda, Sonia Caccia, Rosanna Asselta, Jana Zolkova, Jan Stasko, Ingrid Skornova, Zuzana Snahnicanova, Dusan Loderer, Zora Lasabova, Peter Kubisz

Published in: Journal of Thrombosis and Thrombolysis | Issue 1/2020

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Excerpt

Dear Editors, …
Literature
1.
Amri Y, Toumi Nel H, Hadj Fredj S et al (2016) Congenital afibrinogenemia: identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families. Thromb 143:11–16CrossRef
2.
Simurda T, Zolkova J, Snahnicanova Z et al (2018) Identification of two novel fibrinogen Bβ chain mutations in two slovak families with quantitative fibrinogen disorders. Int J Mol Sci 19:100CrossRef
3.
Korte W, Poon MC, Iorio A et al (2017) Thrombosis in inherited fibrinogen disorders. Transfus Med Hemother 44:70–76CrossRef
4.
Casini A, de Moerloose P, Neerman-Arbez M (2016) Clinical features and management of congenital fibrinogen deficiencies. Semin Thromb Hemost 42:366–374CrossRef
5.
Casini A, Lukowski S, Quintard VL et al (2014) FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations. Thromb Res 133:868–874CrossRef
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Kollman JM, Pandi L, Sawaya MR et al (2009) Crystal structure of human fibrinogen. Biochemistry 48:3877–3886CrossRef
7.
Neerman-Arbez M, de Moerloose P, Honsberger A et al (2001) Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet 108:237–240CrossRef
8.
Soya K, Takezawa Y, Okumura N et al (2013) Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II. Thromb Res 132:465–470CrossRef
9.
Iida H, Ishii E, Nakahara M et al (2000) A case of congenital afibrinogenemia: fibrinogen hakata, a novel nonsense mutation of the fibrinogen γ-chain gene. Thromb Haemost 84:49–53CrossRef
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Casini A, de Moerloose P (2016) Can the phenotype of inherited fibrinogen disorders be predicted? Haemophilia 22:667–675CrossRef
11.
Okumura N, Terasawa F, Tanaka H et al (2002) Analysis of fibrinogen γ-chain truncations shows the C-terminus, particularly γIle387, is essential for assembly and secretion of this multichain protein. Blood 99:3654–3660CrossRef
Metadata
Title
Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop)
Authors
Tomas Simurda
Sonia Caccia
Rosanna Asselta
Jana Zolkova
Jan Stasko
Ingrid Skornova
Zuzana Snahnicanova
Dusan Loderer
Zora Lasabova
Peter Kubisz
Publication date
01-07-2020
Publisher
Springer US
Published in
Journal of Thrombosis and Thrombolysis / Issue 1/2020
Print ISSN: 0929-5305
Electronic ISSN: 1573-742X
DOI
https://doi.org/10.1007/s11239-019-01991-x

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