J Korean Med Sci.
2009 Dec;24(6):1203-1206. 10.3346/jkms.2009.24.6.1203.
Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
- Affiliations
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- 1Department of Internal Medicine, Hemato-oncology, Chung-Ang University Hospital, Seoul, Korea.
- 2Department of Laboratory Medicine, Chung-Ang University Hospital, Seoul, Korea. chayoung@cau.ac.kr
- 3Department of Laboratory Medicine, Soonchunhyang University Hospital, Seoul, Korea.
- 4Department of Laboratory Medicine, Samsung Medical Center, Seoul, Korea.
- KMID: 1783157
- DOI: http://doi.org/10.3346/jkms.2009.24.6.1203
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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