Novel heterozygous dysfibrinogenemia, Sumida (AαC472S), showed markedly impaired lateral aggregation of protofibrils and mildly lower functional fibrinogen levels

Abstract

Introduction: We encountered a 6-year-old girl with systemic lupus erythematosus.

Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications

“…The majority of the extra Cys residues were found disulfide bonded either to other molecules forming an intermolecular binding or in the same fibrinogen molecule (intramolecular binding). In fact, the new sulfhydryl groups in fibrinogen Caracas V [21], Dusart [22][23], Chapel Hill III [23], Sumida [24], Fukuoka II [13], Ogasa and Kosai [14] were found linked to serum albumin. Identically, the Cys amino acid AαCys442 in fibrinogen Marburg was partly disulfide bridged to albumin molecule after the loss of its disulfide partner AαCys472 [20].…”

“…Identically, the Cys amino acid AαCys442 in fibrinogen Marburg was partly disulfide bridged to albumin molecule after the loss of its disulfide partner AαCys472 [20]. The intermolecular binding of abnormal fibrinogen was also described as another embodiment, after the formation of one or two disulfide bonds between two adjacent abnormal fibrinogen molecules as shown in fibrinogen Longmont [15], Osaka VI [16], Fukuoka II [13] and Sumida [24]. Furthermore, some extra Cys residues in certain abnormal fibrinogens found disulfide bonded to a single Cys amino acid as also disclosed in fibrinogen Longmont [15], Fukuoka II [13] and Osaka II [18].…”

Hypodysfibrinogenemia with a Heterozygous Mutation of γCys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus

“…Approximately 8 μg of fibrinogen was applied to each lane for a and 5 μg for b . Lanes N, T, and M, respectively, correspond to normal control, the present case (Tokai), and molecular marker [19]. HMW, high-molecular-weight fibrinogen (340 kDa); LMW, low-molecular-weight fibrinogen (305 kDa); LMW′, low-molecular-weight prime fibrinogen. …”

Differences in the function and secretion of congenital aberrant fibrinogenemia between heterozygous γD320G (Okayama II) and γΔN319-ΔD320 (Otsu I)

“…Prior to Cesarean section, her coagulation screening tests also revealed a lower level of plasma fibrinogen. Blood collection and plasma separation were performed as described elsewhere [17].…”

“…Recombinant variant fibrinogens were prepared as previously described [17]. Briefly, the variant fibrinogen γ-chain expression vectors, pMLP-γD320G, pMLP-γD320E, pMLP-γΔD320, and pMLP-γΔN319-ΔD320, were altered from the pMLP-γ plasmid, which contained the wild-type γ-chain cDNA, by oligonucleotide-directed mutagenesis using the Quick Change II Site-Directed Mutagenesis Kit (Stratagene, La Jolla, CA, USA) and the following primer pairs (the altered base is underlined); 5′-CCTGGGACAATGACAATGGTAAGTTTGAA GGCAAC-3′ (sense) and 5′-GTTGCCTTCAAACTTACCATTGTCATTGTCCCA GG-3′ (antisense) for γD320G, 5′-CCTGGGACAATGACAATGAGAAGTTT GAAGGCAAC-3′ (sense) and 5′-GTTGCCTTCAAACTTCTCATTGTCATTGTC CCAGG-3′ (antisense) for γD320E, 5′-CTGGGACAATGACAAT AAGTTTGA AGGCAACTGTG-3′ (sense) and 5′-CACAGTTGCCTTCAAACTT ATTGTCAT TGTCCCA G-3′ (antisense) for γΔD320.…”