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 language | English |
|---|---|
| Pages (from-to) | 89-92 |
| Number of pages | 4 |
| Journal | Annals of Clinical and Laboratory Science |
| Volume | 41 |
| Issue number | 1 |
| Publication status | Published - 2011 Sep 1 |
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All Science Journal Classification (ASJC) codes
- Immunology and Allergy
- Microbiology
- Pathology and Forensic Medicine
- Immunology
- Hematology
- Molecular Biology
- Clinical Biochemistry
- Medical Laboratory Technology
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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
TY - JOUR
T1 - Case report
T2 - A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency
AU - Yoo, Jong Ha
AU - Maeng, Ho Young
AU - Kim, Hee Jin
AU - Lee, Kyung A.
AU - Choi, Jong Rak
AU - Song, Jaewoo
PY - 2011/9/1
Y1 - 2011/9/1
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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=79951905759&partnerID=8YFLogxK
M3 - Article
C2 - 21325262
AN - SCOPUS:79951905759
VL - 41
SP - 89
EP - 92
JO - Annals of Clinical and Laboratory Science
JF - Annals of Clinical and Laboratory Science
SN - 0091-7370
IS - 1
ER -