Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment

We identified a patient with novel heterozygous variant fibrinogen, γp.C352R (Niigata II; N-II), who had bleeding episode and failed infertility treatment was suspected to have hypodysfibrinogenemia based on low discordant fibrinogen levels (functional assay 0.33 g/L, immunological 0.91 g/L). analyzed the mechanism of this rare phenotype congenital disorder. Patient plasma purified protein characterization thrombin-catalyzed fibrin polymerization performed. Recombinant fibrinogen-producing Chinese hamster ovary (CHO) cells were established assembly secretion by ELISA western blotting. Purified N-II small lower molecular weight band below normal γ-chain slightly reduced polymerization. A limited proportion p.C352R secreted into culture medium CHO cell lines, but synthesized assembled inside cells. demonstrated that N-II, associated markedly from cells, only affected, produces in plasma.