This case study reports a rare fibrinogen variant, gamma Met310Thr 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 gamma Met310Thr and subsequent extra N-glycosylation at gamma Asn308. Extra N-glycosylated fibrinogen is considered a main inhibitor of normal fibrinogen activity.
Base Sequence ; *Blood Coagulation Disorders, Inherited/genetics/physiopathology ; DNA Mutational Analysis ; Fibrinogens, Abnormal/*genetics ; Humans ; Korea ; Male ; Methionine/*genetics ; Molecular Sequence Data ; *Point Mutation ; Threonine/*genetics ; Young Adult