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

Authors
 Jong-Ha Yoo  ;  Ho-Young Maeng  ;  Hee-Jin Kim  ;  Kyung-A Lee  ;  Jong-Rak Choi  ;  Jaewoo Song 
Citation
 ANNALS OF CLINICAL AND LABORATORY SCIENCE, Vol.41(1) : 89-92, 2011 
Journal Title
 ANNALS OF CLINICAL AND LABORATORY SCIENCE 
ISSN
 0091-7370 
Issue Date
2011
MeSH
Adult ; Amino Acid Substitution/genetics* ; Antithrombin III/genetics* ; Antithrombin III Deficiency/genetics* ; Asian Continental Ancestry Group/genetics* ; Base Sequence ; Binding Sites ; DNA Mutational Analysis ; Female ; Heparin/metabolism* ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense/genetics* ; Pedigree ; Republic of Korea
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.
Full Text
http://www.annclinlabsci.org/content/41/1/89.long
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/93921
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