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Protein C deficiency in a family with thromboembolism and identified gene mutations.

Authors
  • Hoshi, Sakuo
  • Hijikata, Minako
  • Togashi, Yuuki
  • Aoyagi, Tetsuji
  • Kono, Chiyoko
  • Yamada, Yoshihito
  • Amano, Hiroko
  • Keicho, Naoto
  • Yamaguchi, Tetsuo
Type
Published Article
Journal
Internal medicine (Tokyo, Japan)
Publication Date
Jan 01, 2007
Volume
46
Issue
13
Pages
997–1003
Identifiers
PMID: 17603240
Source
Medline
License
Unknown

Abstract

Protein C is the central component of the major anti-thrombotic regulatory system, and individuals with hereditary protein C deficiency tend to have an increased risk of thromboembolism. During the last several years, mutations causing protein C deficiency have been identified. In the present study, we report familial cases with three nucleotide substitutions: One is a missense mutation Arg169Trp, which was previously reported. The other two are C-154T promoter polymorphism (rs1799808 on dbSNP database), the function of which is unknown and Ser99Ser synonymous polymorphism (rs5936). All three mutations were found in a 24-year-old patient with pulmonary thromboembolism and his 54-year-old father who also had pulmonary thromboembolism. C-154T promoter polymorphism (rs1799808 on dbSNP database) and Ser99Ser synonymous polymorphism (rs5936) were found in the patient's mother.

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