title: A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.
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.
authors.affiliation: Department of Laboratory Medicine, National Health Insurance Corporation, Ilsan Hospital, Goyang, Korea.
authors.forename: Jong-Ha
authors.initials: JH
authors.lastname: Yoo
authors.forename: Ho-Young
authors.initials: HY
authors.lastname: Maeng
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Jong-Rak
authors.initials: JR
authors.lastname: Choi
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001665:Binding Sites; D004252:DNA Mutational Analysis; D005260:Female; D006493:Heparin / Q000378:metabolism*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D056910:Republic of Korea
chemical_list: C542513:SERPINC1 protein, human; D000990:Antithrombin III; D006493:Heparin