title: Inherited Anti-Thrombin Deficiency in A Malay-Malaysian Family: A Missense Mutation at Nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene.
abstract: OBJECTIVE
  Inherited anti-thrombin deficiency is an autosomal dominant disorder which is associated with increased risk for venous thromboembolism (VTE). This condition is very rare in Malaysia and there has been no documented report. Thus, the aim of the present study is to investigate the type of an inherited anti-thrombin deficiency mutation in a 25-year-old Malay woman who presented with deep vein thrombosis in her first pregnancy.
  
  
  METHODS
  DNA was extracted from the patient's blood sample and buccal mucosal swabs from family members. Polymerase chain reaction(PCR) assays were designed to cover all seven exons of the serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1) gene; and the products were subjected to DNA sequencing. Sequences were referred to NCBI Reference Sequence: NG_012462.1.
  
  
  RESULTS
  A heterozygous substitution mutation at nucleotide position 13267 (CCT->ACT) was identified in the patient and two other family members, giving a possible change of codon 439 (Pro→Thr) also known as anti-thrombin Budapest 5. The genotype was absent in 90 healthy controls.
  
  
  CONCLUSIONS
  The study revealed a heterozygous antithrombin Budapest 5 mutation in SERPINC 1 giving rise to a possible anti-thrombin deficiency in a Malay-Malaysian family.
authors.affiliation: International Islamic University Malaysia (IIUM), Kulliyyah of Medicine, Department of Basic Medical Sciences. noleata@iium.edu.my.
authors.forename: A T
authors.initials: AT
authors.lastname: Norlelawati
authors.affiliation: Hospital Tengku Ampuan Afzan Hospital, Department of Pathology, Kuantan, Pahang, Malaysia.
authors.forename: I
authors.initials: I
authors.lastname: Rusmawati
authors.affiliation: International Islamic University Malaysia (IIUM), Kulliyyah of Medicine, Department of Basic Medical Sciences.
authors.forename: M
authors.initials: M
authors.lastname: Naznin
authors.affiliation: International Islamic University Malaysia (IIUM), Kulliyyah of Medicine, Department of Basic Medical Sciences.
authors.forename: O
authors.initials: O
authors.lastname: Nur Nadia
authors.affiliation: International Islamic University Malaysia (IIUM), Kulliyyah of Science, Department of Biomedical Science.
authors.forename: R
authors.initials: R
authors.lastname: Rizqan Aizzani
authors.affiliation: International Islamic University Malaysia (IIUM), Kulliyyah of Medicine, Department of Obstetrics & Gynaecology.
authors.forename: A W
authors.initials: AW
authors.lastname: Noraziana