title: Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution.
abstract: 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.
authors: Department of Internal Medicine, Hemato-oncology, Chung-Ang University Hospital, Seoul, Korea.
authors: Eunkyung
authors: E
authors: Park
authors: Geumbore
authors: G
authors: Park
authors: Rojin
authors: R
authors: Park
authors: Hee-Jin
authors: HJ
authors: Kim
authors: Sang Jae
authors: SJ
authors: Lee
authors: Young Joo
authors: YJ
authors: Cha
mesh_terms: 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
chemical_list: D015241:Fibrinogens, Abnormal; D013912:Threonine; D008715:Methionine