Fibrinogen yecheon: Congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution

This case study reports a rare fibrinogen variant, γMet310Thr mutation, for the first time in Korea. The case shows a point mutation from T to C in the 1,007th nucleotide of the FGG gene. This report describes a variant fibrinogen, hereinafter called "fibrinogen Yecheon", using the name after the town where the patient was living at the time of diagnosis. Fibrinogen Yecheon has a de novo heterozygous point mutation of FGG resulting in γMet310Thr and subsequent extra N-glycosylation at γAsn308. Extra N-glycosylated fibrinogen is considered a main inhibitor of normal fibrinogen activity.