Fibrinogen Poissy II (gammaN361K): a novel dysfibrinogenemia associated with defective polymerization and peptide B release.
A fibrinogen variant was identified in a pregnant patient with disseminated intravascular coagulation and abruptio placentae. This dysfibrinogen was also found in four asymptomatic members of the patient's family. Coagulation studies showed prolongation of both the thrombin and reptilase times, and discrepancy was noted between the levels of plasma fibrinogen as determined by a kinetic versus an immunological determination or light-scattering assay. Studies on purified fibrinogen revealed an impaired release of fibrinopeptide B by thrombin related to a delayed thrombin-induced fibrin polymerization. DNA sequencing revealed a heterozygous T <-- A point mutation in position 9373 of the gamma-chain gene (exon 9), which substituted a K for an N at position 361.
Mathonnet
Florence
F
Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Raymond Poincaré, 92380 Garches, France.
Guillon
Laurent
L
Detruit
Hélène
H
Mazmanian
Guy-Michel
GM
Dreyfus
Marie
M
Alvarez
Jean-Claude
JC
Giudicelli
Yves
Y
de Mazancourt
Philippe
P
D000037:Abruptio Placentae / Q000209:etiology; D000328:Adult; D000347:Afibrinogenemia / Q000209:etiology / Q000235:genetics*; D001780:Blood Coagulation Tests; D004252:DNA Mutational Analysis; D004211:Disseminated Intravascular Coagulation / Q000209:etiology; D004745:Enkephalins / Q000378:metabolism*; D005192:Family Health; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D020125:Mutation, Missense; D017354:Point Mutation; D011247:Pregnancy; D011498:Protein Precursors / Q000378:metabolism*; D013917:Thrombin / Q000494:pharmacology
D004745:Enkephalins; D015241:Fibrinogens, Abnormal; D011498:Protein Precursors; C483742:fibrinogen Poissy II; C056943:peptide B; D013917:Thrombin