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Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease

  • Toshio ShigekiyoEmail author
  • Hikaru Yagi
  • Etsuko Sekimoto
  • Hironobu Shibata
  • Shuji Ozaki
  • Masanori Matsumoto
Case Report
  • 34 Downloads

Abstract

The proband’s von Willebrand factor (VWF) antigen and VWF collagen-binding capacity were 14% and 10%, respectively; his sister’s were 16% and 9%, respectively; and his nephew’s were 30% and 15%, respectively. No apparent loss of high-molecular weight VWF multimers was observed in the plasma of these patients. A single-nucleotide substitution of T to C was found at nucleotide position 113042 in their VWF gene, converting Leu1733 to Pro in the A3 domain. These results suggest that p.Leu1733Pro is responsible for type 2M von Willebrand disease in this family.

Keywords

Type 2M VWD VWF A3 domain VWF collagen-binding capacity ABO blood type Phenotypic variability 

Notes

Acknowledgements

The authors would like to thank Yoshiko Sato, Kimiko Sakai, Mizuho Tanaka and Kiyoshi Nishimura for their expert technical assistance.

Compliance with ethical standards

Conflict of interest

The authors declare no conflicts of interest in association with the present study.

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Copyright information

© Japanese Society of Hematology 2019

Authors and Affiliations

  1. 1.Department of HematologyTokushima Prefectural Central HospitalTokushimaJapan
  2. 2.Department of Blood Transfusion MedicineNara Medical UniversityNaraJapan

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