Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution
- Authors
- Park, Eunkyung; Park, Geumbore; Park, Rojin; Kim, Hee-Jin; Lee, Sang Jae; Cha, Young Joo
- Issue Date
- Dec-2009
- Publisher
- KOREAN ACAD MEDICAL SCIENCES
- Keywords
- Fibrinogen; Dysfibrinogenemia; FGG Mutation; Fibrinogen Yecheon
- Citation
- JOURNAL OF KOREAN MEDICAL SCIENCE, v.24, no.6, pp 1203 - 1206
- Pages
- 4
- Journal Title
- JOURNAL OF KOREAN MEDICAL SCIENCE
- Volume
- 24
- Number
- 6
- Start Page
- 1203
- End Page
- 1206
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/22875
- DOI
- 10.3346/jkms.2009.24.6.1203
- ISSN
- 1011-8934
1598-6357
- 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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