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Blood, 1 December 2004, Vol. 104, No. 12, pp. 3618-3623. Prepublished online as a Blood First Edition Paper on July 29, 2004; DOI 10.1182/blood-2004-06-2312. This Article Full Text (PDF) All Versions of this Article: 2004-06-2312v1 104/12/3618    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Neerman-Arbez, M. Articles by de Moerloose, P. Search for Related Content PubMed PubMed Citation Articles by Neerman-Arbez, M. Articles by de Moerloose, P. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted June 17, 2004 Accepted July 12, 2004 Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Marguerite Neerman-Arbez*, Myrna Germanos-Haddad, Konstantinos Tzanidakis, Dung Vu, Samuel Deutsch, Armelle David, Michael A Morris, and Philippe de Moerloose Department of Genetic Medicine and Development, University Medical School, Geneva, Switzerland; Division of Angiology and Hemostasis, University Hospital, Geneva, Switzerland Hematology and Immunology Laboratory, Hotel-Dieu Hospital, Beirut, Lebanon Department of Genetic Medicine and Development, University Medical School, Geneva, Switzerland Division of Medical Genetics, University Hospital, Geneva, Switzerland Division of Angiology and Hemostasis, University Hospital, Geneva, Switzerland * Corresponding author; email: Marguerite.Arbez{at}medecine.unige.ch. Congenital afibrinogenemia, the most severe form of fibrinogen deficiency, is characterized by the complete absence of fibrinogen. The disease is caused by mutations in one of the three fibrinogen genes FGG, FGA and FGB, clustered on the long arm of human chromosome 4. The majority of cases are due to null mutations in the FGA gene although one would expect the three genes to be equally implicated. However, most patients studied so far are of Caucasian origin, and therefore the identification of causative mutations in non-European families is necessary to establish if this finding holds true in all ethnic groups. In this study, we report the identification of a novel nonsense mutation (Arg134X) in the FGG gene responsible for congenital afibrinogenemia in ten patients from Lebanon. Expression studies in COS-7 cells demonstrated that the Arg134X codon, which is encoded by adjacent exons (TG-intron 4-A) affected neither mRNA splicing nor stability, but led to the production of an unstable, severely truncated fibrinogen gamma-chain which is not incorporated into a functional fibrinogen hexamer. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: D. Vu, C. Di Sanza, D. Caille, P. de Moerloose, H. Scheib, P. Meda, and M. Neerman-Arbez Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia Hum. Mol. Genet., November 1, 2005; 14(21): 3271 - 3280. [Abstract] [Full Text] [PDF] D Vu, P de Moerloose, A Batorova, J Lazur, L Palumbo, and M Neerman-Arbez Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the {gamma} chain globular domain impairing fibrinogen secretion J. Med. Genet., September 1, 2005; 42(9): e57 - e57. [Abstract] [Full Text] [PDF]

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