Article

Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution.

Department of Internal Medicine, Hemato-oncology, Chung-Ang University Hospital, Seoul, Korea.
Journal of Korean medical science (Impact Factor: 0.84). 12/2009; 24(6):1203-6. DOI:10.3346/jkms.2009.24.6.1203
Source: PubMed

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.

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May 30, 2012