Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution.
10.3346/jkms.2009.24.6.1203
- Author:
Eunkyung PARK
1
;
Geumbore PARK
;
Rojin PARK
;
Hee Jin KIM
;
Sang Jae LEE
;
Young Joo CHA
Author Information
1. Department of Internal Medicine, Hemato-oncology, Chung-Ang University Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Fibrinogen;
Dysfibrinogenemia;
FGG Mutation;
Fibrinogen Yecheon
- MeSH:
Base Sequence;
*Blood Coagulation Disorders, Inherited/genetics/physiopathology;
DNA Mutational Analysis;
Fibrinogens, Abnormal/*genetics;
Humans;
Korea;
Male;
Methionine/*genetics;
Molecular Sequence Data;
*Point Mutation;
Threonine/*genetics;
Young Adult
- From:Journal of Korean Medical Science
2009;24(6):1203-1206
- CountryRepublic of Korea
- Language:English
-
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.
