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

• Park E
• Park G
• Park R
• Kim HJ
• Lee SJ
• Cha YJ

• 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.

Keyword

Fibrinogen; Dysfibrinogenemia; FGG Mutation; Fibrinogen Yecheon

MeSH Terms

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

Figure

• 

  Fig. 1 The chromatogram shows DNA sequencing results of fibrinogen γ-chain gene (FGG). The A indicates the sample of the patient. A heterozygous FGG mutation (c.1007T>C [p.Met336Thr]) was identified. The B indicates the sample of the father and the C indicates the sample of the mother.

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