Advertisement

International Journal of Hematology

, Volume 75, Issue 1, pp 100–103 | Cite as

Superior Mesenteric Venous Thrombosis Associated With a Familial Missense Mutation (Pro626Leu) in the SHBG-Like Domain of the Protein S Molecule

  • Miyuki Kato
  • Shinsuke Iida
  • Mikinori Sato
  • Yoshihito Hayami
  • Ichiro Hanamura
  • Kazuhisa Miura
  • Masato Ito
  • Shinsuke Harada
  • Hirokazu Komatsu
  • Atsushi Wakita
  • Tadao Manabe
  • Ryuzo Ueda
Case Report
  • 38 Downloads

Abstract

A 76-year-old Japanese woman was hospitalized for ileus symptoms caused by extensive thrombosis of the superior mesen-teric vein. Because laboratory test results suggested type III protein S (PS) deficiency, molecular changes in PS were investi-gated.A single-base transition, CCG to CTG at codon 626 in exon XV, resulting in the missense mutation Pro626Leu, was identified in an allele of the patient and in her son. Reverse transcriptase polymerase chain reaction analysis indicated the presence of both normal and mutant types of PS messages in platelet-derived messenger RNAs. Our findings thus suggest that Pro626 in SHBG-like domain 7 may be crucial for in vivo antithrombotic activity of the PS molecule.

Key words

Protein S deficiency SHBG-like domain Missense mutation Superior mesenteric venous thrombosis Pro626Leu 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Dahlbäck B. The protein C anticoagulant system: inherited defects as basis for venous thrombosis.Thromb Res. 1995;77:1–43.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    van Wijinen M, Stam JG, van’t Veer C, et al. The interaction of protein S with the phospholipid surface is essential for the activated protein C-independent activity of protein S.Thromb Haemost. 1996;76:397–403.CrossRefGoogle Scholar
  3. 3.
    Dahlbäck B. Interaction between complement component C4b- binding protein and vitamin K-dependent protein S. A link between blood coagulation and the complement system.Scand J Clin Lab Inves. 1985;177(suppl):33–41.Google Scholar
  4. 4.
    Simmonds RE, Ireland H, Lane DA, et al. Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect.Ann Intern Med. 1998;128:8–14.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys- 155 in the second epidermal growth factor-like domain of Protein S.Blood. 1994;83:683–690.PubMedGoogle Scholar
  6. 6.
    Yamazaki T, Katsumi A, Okamoto Y, et al. Two distinct novel splice site mutations in a compound heterozygous patients with protein S deficiency.Thromb Haemost. 1997;77:14–20.PubMedPubMedCentralCrossRefGoogle Scholar
  7. 7.
    Diepstraten CM, Ploos van Amstel JK, Reitsma PH, Bertina RM. A CCA/CCG neutral polymorphism in the codon for Pro 626 in the human protein S alpha (PROS1).Nuclei Acids Res. 1991;19:5091.CrossRefGoogle Scholar
  8. 8.
    Nyberg P, Dahlbäck B, Garcia de Frutos P. The SHBG-like region of protein S is crucial for factor V-dependent APC cofactor function.FEBS Lett. 1998;433:28–32.CrossRefPubMedGoogle Scholar
  9. 9.
    Gandrille S, Borgel D, Ireland H, et al. Protein S Deficiency: a data- base of mutations.Thrombo Haemast. 1997;77:1201–1214.CrossRefGoogle Scholar
  10. 10.
    Espinosa-Parrilla Y, Yamazaki T, Sala N, Dahlbäck B, Garcia de Frutos P. Protein S secretion differences of missense mutation account for phenotypic heterogeneity.Blood. 2000;95:173–179.PubMedGoogle Scholar
  11. 11.
    Gandrille S, Borgel D, Sala N, et al. Protein S deficiency: a database of mutations-summary of the first update.Thrombo Haemast. 2000;84:918.CrossRefGoogle Scholar
  12. 12.
    Zoller B, Garcia de Frutos P, Dahlbäck B. Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of same genetic disease.Blood. 1995;85:3524–3531.PubMedGoogle Scholar
  13. 13.
    Chen MC, Brown MC, Willson RA, Nicholls S, Surawicz CM. Mesenteric vein thrombosis. Four cases and review of the literature.Dig Dis. 1996;14:382–389.CrossRefPubMedGoogle Scholar
  14. 14.
    Borgel D, Gandrille S, Aiach M. Protein S deficiency.Thromb Haemost. 1997;78:351–356.PubMedCrossRefGoogle Scholar

Copyright information

© The Japanese Society of Hematology 2002

Authors and Affiliations

  • Miyuki Kato
    • 1
  • Shinsuke Iida
    • 1
  • Mikinori Sato
    • 2
  • Yoshihito Hayami
    • 1
    • 3
  • Ichiro Hanamura
    • 1
    • 3
  • Kazuhisa Miura
    • 1
  • Masato Ito
    • 1
  • Shinsuke Harada
    • 1
  • Hirokazu Komatsu
    • 1
  • Atsushi Wakita
    • 4
  • Tadao Manabe
    • 2
  • Ryuzo Ueda
    • 1
  1. 1.Second Department of Internal MedicineAichi Blood Disease Research FoundationAichiJapan
  2. 2.First Department of SurgeryAichi Blood Disease Research FoundationAichiJapan
  3. 3.Department of Transfusion MedicineNagoya City University Medical SchoolNagoyaJapan
  4. 4.Aichi Blood Disease Research FoundationAichiJapan

Personalised recommendations