title: Investigation of von Willebrand factor gene mutations in Korean von Willebrand disease patients.
abstract: BACKGROUND
  We intended to find the mutations of von Willebrand factor (VWF) gene as the most important contributing factor of von Willebrand disease (VWD) in Korean patients.
  
  
  METHODS
  In 40 known vWD patients mutations of vWF gene were sought by direct sequencing of PCR products targeting exons 18, 19, 20, 26, 28 and 52 frequently implicated as the locations of mutation. For factors other than VWF gene contributing to VWD phenotype, we tested ABO blood group and measured ADAMTS13 activity in VWD patients.
  
  
  RESULTS
  Twenty-seven cases (67.5%) were type 1 vWD, 3 cases (7.5%) type 3, and 5 cases (12.5%) type 2A. Three cases were type 2A or 2B (7.5%) and 2 cases were suspected to be type 2N (5.0%). Among them six candidate missense mutations were found: V1279I, R1306W, R1308C, and V1316M were previously reported in type 2B and type 1 vWD, and C858W and T1477I were novel findings. All patients were heterozygotes. Blood group O was overly represented in VWD patients, while ADAMTS13 activity of the patients was not significantly different from that of normal control.
  
  
  CONCLUSIONS
  Mutation of VWF gene detected by genetic studies can significantly improve the diagnostic accuracy, especially in subtype assignment of VWD. Two novel mutations, C858W and T1477I associated with VWD were found and expected to contribute to the elucidation of its pathophysiology.
authors: Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors: Jaewoo
authors: J
authors: Song
authors: Jong Rak
authors: JR
authors: Choi
authors: Kyung Soon
authors: KS
authors: Song
mesh_terms: D000017:ABO Blood-Group System; D051722:ADAM Proteins / Q000032:analysis; D000071120:ADAMTS13 Protein; D006579:Heterozygote; D006801:Humans; D007723:Korea; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D014842:von Willebrand Diseases / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D014841:von Willebrand Factor / Q000032:analysis / Q000235:genetics*
chemical_list: D000017:ABO Blood-Group System; D014841:von Willebrand Factor; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human