Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution.
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.
Park
Eunkyung
E
Department of Internal Medicine, Hemato-oncology, Chung-Ang University Hospital, Seoul, Korea.
Park
Geumbore
G
Park
Rojin
R
Kim
Hee-Jin
HJ
Lee
Sang Jae
SJ
Cha
Young Joo
YJ
D001483:Base Sequence; D025861:Blood Coagulation Disorders, Inherited / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006801:Humans; D007723:Korea; D008297:Male; D008715:Methionine / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D013912:Threonine / Q000235:genetics*; D055815:Young Adult
D015241:Fibrinogens, Abnormal; D013912:Threonine; D008715:Methionine