A Gly1609Arg missense mutation in the vwf gene in a korean patient with von Willebrand disease type 2A

Seung Jun Choi, Eun Young Lee, Hee Jin Kim, Kyung A. Lee, Jaewoo Song, Jong Rak Choi, Jong Ha Yoo

Research output: Contribution to journalLetter

Abstract

We describe a case of a c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A. The proband is a 37-year-old female who suffers from dysmenorrhea and menorrhagia. On laboratory testing, we found a low (0.01) vWF:RCo/Ag ratio, a decrease in high and intermediate molecular weight multimers from plasma, and abnormalities in the collagen binding capacity of plasma vWF, all of which were indicative of vWD type 2. Family studies revealed that her sister, son, and daughter also had a low vWF:RCo/Ag ratio and a decrease in high molecular weight multimers from plasma. Genetic analyses showed that she and her three family members had the same heterozygous c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation. To our knowledge, this is the first report of the c.4825G>A (p.Gly1609Arg [Gly846Arg]) heterozygote mutation in Korean family members with vWD type 2A.

Original languageEnglish
Pages (from-to)98-102
Number of pages5
JournalAnnals of Clinical and Laboratory Science
Volume42
Issue number1
Publication statusPublished - 2012

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology
  • Molecular Biology
  • Hematology
  • Clinical Biochemistry
  • Medical Laboratory Technology

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