Open AccessFibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia
Author(s) -
Ryan L. Davis,
Michael W. Mosesson,
Bryce A. Kerlin,
Jason A Canner,
Frederick B. Ruymann,
Stephen O. Brennan
Publication year - 2007
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.11235
Subject(s) - hypofibrinogenemia , fibrinogen , thrombophilia , coagulation , point mutation , mutation , genetics , biology , medicine , gene , pregnancy
Fibrinogen is an essential component of the coagulation cascade and the acute phase response. The native 340 kDa molecule has a symmetrical trinodular structure composed of a central E-domain connected to outer D-domains by triple helical coiled-coils.1 Several mutations known to cause hypofibrinogenemia occur within the C-terminal gammaD-domain and have helped to elucidate the structurally and functionally important areas of this domain.2-5 Here we report the identification of a novel point mutation gammaG200V (fibrinogen Columbus) causing hypofibrinogenemia and co-segregating with three genetic thrombophilia risk factors.