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

التفاصيل البيبلوغرافية
العنوان: A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency
المؤلفون: Jong-Ha, Yoo, Ho-Young, Maeng, Hee-Jin, Kim, Kyung-A, Lee, Jong-Rak, Choi, Jaewoo, Song
المصدر: Annals of clinical and laboratory science. 41(1)
سنة النشر: 2011
مصطلحات موضوعية: Adult, Male, Antithrombin III Deficiency, Binding Sites, Base Sequence, Heparin, Antithrombin III, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Pedigree, Amino Acid Substitution, Asian People, Republic of Korea, Humans, Female
الوصف: 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.
تدمد: 1550-8080
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::18a6089557cbebcd5e6795e06b629ecf
https://pubmed.ncbi.nlm.nih.gov/21325262
رقم الانضمام: edsair.pmid..........18a6089557cbebcd5e6795e06b629ecf
قاعدة البيانات: OpenAIRE