Observational analysis reveals reduced fibrinogen activity in a family with dysfibrinogenemia, indicating genetic factors are crucial.
Key Points
The p.Arg401Gly mutation in the FGG gene likely contributes to dysfibrinogenemia by impairing fibrinogen stability and function.
Coagulation assays showed reduced fibrinogen levels and mild prolongation of PT and TT in affected family members.
Whole-exome sequencing identified a novel variant in the FGG gene, disrupting protein stability through compromised hydrogen bonding.
Scanning electron microscopy revealed a significantly reduced fiber network density in fibrin clots from affected individuals, supporting the mutation's impact.