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Blood, 15 December 2003, Vol. 102, No. 13, pp. 4413-4415. Prepublished online as a Blood First Edition Paper on July 31, 2003; DOI 10.1182/blood-2003-06-2141. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-06-2141v1 102/13/4413    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map 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 Vu, D. Articles by Neerman-Arbez, M. Search for Related Content PubMed PubMed Citation Articles by Vu, D. Articles by Neerman-Arbez, M. Related Collections Hemostasis, Thrombosis, and Vascular Biology Gene Expression Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Brief report Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion Dung Vu, Paula H. B. Bolton-Maggs, Jeremy R. Parr, Michael A. Morris, Philippe de Moerloose, and Marguerite Neerman-Arbez From the Division of Medical Genetics, University Medical School and University Hospitals, Geneva, Switzerland; Royal Liverpool Children's Hospital, Liverpool, United Kingdom; Department of Paediatrics, Stoke Mandeville Hospital, Aylesbury, United Kingdom; and Division of Angiology and Hemostasis, University Hospitals, Geneva, Switzerland. Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease: a homozygous deletion of approximately 11 kb of the fibrinogen -chain gene (FGA). Subsequent studies revealed that the great majority of afibrinogenemia mutations are localized in FGA, but mutations were also found in FGG and FGB. Apart from 3 missense mutations identified in the C-terminal portion of FGB, all fibrinogen gene mutations responsible for afibrinogenemia are null. In this study, a young boy with afibrinogenemia was found to be a compound heterozygote for 2 mutations in FGB: an N-terminal nonsense mutation W47X (exon 2) and a missense mutation (G444S, exon 8). Coexpression of the FGB G444S mutant cDNA in combination with wild-type FGA and FGG cDNAs demonstrated that fibrinogen molecules containing the mutant chain are able to assemble but are not secreted into the media, confirming the pathogenic nature of the identified mutation. (Blood. 2003;102:4413-4415) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: D. Vu, C. Di Sanza, and M. Neerman-Arbez Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants Haematologica, February 1, 2008; 93(2): 224 - 231. [Abstract] [Full Text] [PDF] 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] M. Neerman-Arbez, M. Germanos-Haddad, K. Tzanidakis, D. Vu, S. Deutsch, A. David, M. A. Morris, and P. de Moerloose Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Blood, December 1, 2004; 104(12): 3618 - 3623. [Abstract] [Full Text] [PDF] P. M. Mannucci, S. Duga, and F. Peyvandi Recessively inherited coagulation disorders Blood, September 1, 2004; 104(5): 1243 - 1252. [Abstract] [Full Text] [PDF]

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