Case report

A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency

Jong Ha Yoo, Ho Young Maeng, Hee Jin Kim, Kyung A. Lee, Jong Rak Choi, Jaewoo Song

Research output: Contribution to journal › Article

2 Citations (Scopus)

Abstract

We describe a case of heparin binding site Arg79Cys mutation in the gene encoding antithrombin, SERPINC1, in a Korean patient with hereditary antithrombin (AT) deficiency. The patient was a 34-year-old Korean man who presented with deep vein thrombosis (DVT) in his right leg without precipitating factors. On outpatient evaluation, coagulation tests without anticoagulation revealed a decreased AT III activity level at 48%, but normal AT III antigen level at 103%, indicating type II AT deficiency. Family studies revealed that his father (62 years of age) had decreased AT activity (48%) but had normal AT antigen levels (116%), indicating that the proband had a paternally inherited type II AT deficiency. Direct sequencing of the SERPINC1 gene in the patient and his father revealed a heterozygotic missense mutation, a cytosine to thymine substitution at nucleotide position 235 in exon 2 of the SERPINC1 gene (p.Arg79Cys). To our knowledge, this is the first report of Arg79Cys heterozygote mutation in family members with venous thromboembolism.

Original languageEnglish
Pages (from-to)89-92
Number of pages4
JournalAnnals of Clinical and Laboratory Science
Volume41
Issue number1
Publication statusPublished - 2011 Sep 1

Fingerprint

Antithrombin III Deficiency
Antithrombins
Missense Mutation
Heparin
Genes
Binding Sites
Antithrombin III
Fathers
Antigens
Precipitating Factors
Mutation
Thymine
Cytosine
Venous Thromboembolism
Heterozygote
Gene encoding
Venous Thrombosis
Exons
Coagulation
Leg

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Microbiology
  • Pathology and Forensic Medicine
  • Immunology
  • Hematology
  • Molecular Biology
  • Clinical Biochemistry
  • Medical Laboratory Technology

Cite this

Yoo, Jong Ha ; Maeng, Ho Young ; Kim, Hee Jin ; Lee, Kyung A. ; Choi, Jong Rak ; Song, Jaewoo. / Case report : A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. In: Annals of Clinical and Laboratory Science. 2011 ; Vol. 41, No. 1. pp. 89-92.
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abstract = "We describe a case of heparin binding site Arg79Cys mutation in the gene encoding antithrombin, SERPINC1, in a Korean patient with hereditary antithrombin (AT) deficiency. The patient was a 34-year-old Korean man who presented with deep vein thrombosis (DVT) in his right leg without precipitating factors. On outpatient evaluation, coagulation tests without anticoagulation revealed a decreased AT III activity level at 48{\%}, but normal AT III antigen level at 103{\%}, indicating type II AT deficiency. Family studies revealed that his father (62 years of age) had decreased AT activity (48{\%}) but had normal AT antigen levels (116{\%}), indicating that the proband had a paternally inherited type II AT deficiency. Direct sequencing of the SERPINC1 gene in the patient and his father revealed a heterozygotic missense mutation, a cytosine to thymine substitution at nucleotide position 235 in exon 2 of the SERPINC1 gene (p.Arg79Cys). To our knowledge, this is the first report of Arg79Cys heterozygote mutation in family members with venous thromboembolism.",
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Yoo, JH, Maeng, HY, Kim, HJ, Lee, KA, Choi, JR & Song, J 2011, 'Case report: A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency', Annals of Clinical and Laboratory Science, vol. 41, no. 1, pp. 89-92.

Case report : A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. / Yoo, Jong Ha; Maeng, Ho Young; Kim, Hee Jin; Lee, Kyung A.; Choi, Jong Rak; Song, Jaewoo.

In: Annals of Clinical and Laboratory Science, Vol. 41, No. 1, 01.09.2011, p. 89-92.

Research output: Contribution to journal › Article

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N2 - We describe a case of heparin binding site Arg79Cys mutation in the gene encoding antithrombin, SERPINC1, in a Korean patient with hereditary antithrombin (AT) deficiency. The patient was a 34-year-old Korean man who presented with deep vein thrombosis (DVT) in his right leg without precipitating factors. On outpatient evaluation, coagulation tests without anticoagulation revealed a decreased AT III activity level at 48%, but normal AT III antigen level at 103%, indicating type II AT deficiency. Family studies revealed that his father (62 years of age) had decreased AT activity (48%) but had normal AT antigen levels (116%), indicating that the proband had a paternally inherited type II AT deficiency. Direct sequencing of the SERPINC1 gene in the patient and his father revealed a heterozygotic missense mutation, a cytosine to thymine substitution at nucleotide position 235 in exon 2 of the SERPINC1 gene (p.Arg79Cys). To our knowledge, this is the first report of Arg79Cys heterozygote mutation in family members with venous thromboembolism.

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Yoo JH, Maeng HY, Kim HJ, Lee KA, Choi JR, Song J. Case report: A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. Annals of Clinical and Laboratory Science. 2011 Sep 1;41(1):89-92.

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