title: A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A.
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.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Seung Jun
authors.initials: SJ
authors.lastname: Choi
authors.forename: Eun-Young
authors.initials: EY
authors.lastname: Lee
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
authors.forename: Jaewoo
authors.initials: J
authors.lastname: Song
authors.forename: Jong-Rak
authors.initials: JR
authors.lastname: Choi
authors.forename: Jong-Ha
authors.initials: JH
authors.lastname: Yoo
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D056910:Republic of Korea; D056728:von Willebrand Disease, Type 2 / Q000235:genetics*; D014841:von Willebrand Factor / Q000737:chemistry / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor