A novel mutation in the fibrinogen -chain gene c.952G>T, p. (Gly318Cys) leading to hypo dysfibrinogenemia
Thrombosis Research(2024)
Abstract
•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.
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Key words
Hypo dysfibrinogenemia,Fibrinogen gamma-chain gene,Bleeding,Thrombosis
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