Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia.
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.
Davis
Ryan L
RL
Mosesson
Michael W
MW
Kerlin
Bryce A
BA
Canner
Jason A
JA
Ruymann
Frederick B
FB
Brennan
Stephen O
SO
D020016:Activated Protein C Resistance / Q000150:complications / Q000235:genetics*; D000328:Adult; D000347:Afibrinogenemia / Q000150:complications / Q000235:genetics*; D019943:Amino Acid Substitution; D002543:Cerebral Hemorrhage / Q000209:etiology; D002675:Child, Preschool; D004200:Diseases in Twins; D005165:Factor V / Q000235:genetics; D005260:Female; D015241:Fibrinogens, Abnormal / Q000737:chemistry / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008958:Models, Molecular; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D011487:Protein Conformation; D017434:Protein Structure, Tertiary; D012307:Risk Factors; D013329:Structure-Activity Relationship; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*
D015241:Fibrinogens, Abnormal; C095381:factor V Leiden; C523989:fibrinogen Columbus; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)