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A novel mutation in the fibrinogen γ-chain gene c.952G>T, p. (Gly318Cys) leading to hypo dysfibrinogenemia

2023; Elsevier BV; Volume: 234; Linguagem: Inglês

10.1016/j.thromres.2023.12.012

1879-2472

Aniello Casoria, C. Miele, Filomena Capasso, Rosaria Mormile, Luigi Bisceglia, Riccardo Pracella, Gennaro Vecchione, Ferdinando Cirillo, I. Frangipane, Paolo Conca, Ernesto Cimino, Matteo Nicola Dario Di Minno, Antonella Tufano,

Blood properties and coagulation

•At variance with other rare bleeding disorders, fibrinogen defects are prone to arterial and venous thrombosis, due to still partially known mechanisms, in addition to bleeding. •We report a novel missense mutation in the fibrinogen γ-chain gene (FGG) in a patient referred to our department because of a history of post-partum hemorrhages and likely hypo-dysfibrinogenemia, and in seven family members (with some members affected by arterial thrombosis and transient ischemic attack and cerebral gliosis). •Our data confirm the heterogeneity of phenotypes of fibrinogen disorders (as seen in the family studied) and contributed to expanding the spectrum of genetic alterations of congenital fibrinogen disorders.