Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution

• Published in: Journal of Korean medical science Vol. 24; no. 6; pp. 1203 - 1206
• Main Authors: Park, Eunkyung, Park, Geumbore, Park, Rojin, Kim, Hee-Jin, Lee, Sang Jae, Cha, Young Joo
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Academy of Medical Sciences 01.12.2009; 대한의학회
• Subjects: Base Sequence; Blood Coagulation Disorders, Inherited - genetics; Blood Coagulation Disorders, Inherited - physiopathology; Case Report; DNA Mutational Analysis; Fibrinogens, Abnormal - genetics; Humans; Korea; Male; Methionine - genetics; Molecular Sequence Data; Point Mutation; Threonine - genetics; Young Adult; 의학일반; Korea; FGG Mutation; Fibrinogen Yecheon; Fibrinogen; Dysfibrinogenemia
• ISSN: 1011-8934; 1598-6357; 1598-6357
• DOI: 10.3346/jkms.2009.24.6.1203

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.