Fibrinogen Columbus II: A novel c.1075G>T mutation in the FGG gene causing hypodysfibrinogenemia and thrombosis in an adolescent male. Issue 9 (27th May 2019)

• Record Type: Journal Article
• Authors: Kumar, Riten; Dawson, Jennifer; Varga, Elizabeth; Canini, Joan T.; Monda, Kay L.; Dunn, Amy L.
• Is Part Of: Pediatric blood & cancer. Volume 66:Issue 9(2019)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2019-05-27
• Subjects: hypodysfibrinogenemia -- thrombolysis -- thrombosis; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.27832
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: Hypodysfibrinogenemia, the least frequently reported congenital fibrinogen disorder is characterized by low circulating levels of a dysfunctional protein, and is associated with phenotypic features of both hypo‐ and dysfibrinogenemia. Herein, we report an adolescent male with unprovoked venous thromboembolism and hypodysfibrinogenemia. Patient had recurrent, progressive thrombosis despite therapeutic anticoagulation with both low molecular weight heparin and warfarin. He had clinical and radiological improvement after transition to a direct thrombin inhibitor. Sequencing of the FGG gene identified a novel heterozygous mutation, c.1075G>T. Structural visualization of the identified variant was pursued and suggested that the mutation likely destabilizes the Ca 2+ ‐binding site of fibrinogen resulting in pathogenicity.