https://scholars.lib.ntu.edu.tw/handle/123456789/562360
標題: | A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation | 作者: | MING-CHING SHEN Lin J.-S. Lin D.S.-Y. Hsu S.-C. Lin B. |
關鍵字: | A1 domain mutation; ECL; High-molecular weight; HMW; Taiwanese Chinese; Type 2B VWD; Von Willebrand disease; Von Willebrand factor; Von Willebrand factor antigen; Von Willerand factor ristocetin-cofactor; VWD; VWF; VWF gene; VWF:Ag; VWF:RCo | 公開日期: | 2003 | 卷: | 112 | 期: | 5-6 | 起(迄)頁: | 291-295 | 來源出版物: | Thrombosis Research | 摘要: | Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were studied. The proband was a 55-year-old woman who gave birth to two daughters and one son aged 30, 29 and 27, respectively. All had abnormal mucocutaneous bleedings since their childhood. In proband, PT, PTT and platelet count were normal; template bleeding time was 14 min; VIII:C was 51%, von Willebrand factor antigen (VWF:Ag), 42% and von Willerand factor ristocetin-cofactor (VWF:RCo, 15%); ristocetin-induced platelet aggregation (RIPA) at 0.3 and 0.6 mg/ml of ristocetin was 16% and 68%, respectively. The enhanced response to ristocetin was identified to be in plasma, not in platelet itself, by mixing studies. Analysis of von Willebrand factor (VWF) multimer of plasma but not of platelets showed absence of high-molecular weight (HMW) multimer. All three children had similar laboratory findings. Exon 28 of VWF gene was amplified using polymerase chain reaction (PCR) and sequenced. The proband and three children were all found to be heterozygous for C to T transition at nucleotide 3916 resulting in Arg 1306 Trp (R1306W) substitution. This mutation in the glycoprotein Ib (GPIb)-binding site has been found to increase the affinity of plasma VWF for platelets, and thus cause loss of HMW multimers and often thrombocytopenia. In conclusion, a first report of type 2B VWD in a Taiwanese Chinese family who show R1306W mutation in VWF gene was described. ? 2004 Elsevier Ltd. All rights reserved. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/562360 | ISSN: | 0049-3848 | DOI: | 10.1016/j.thromres.2003.11.013 | SDG/關鍵字: | glycoprotein Ib; ristocetin; von Willebrand factor; adult; article; bay region binding site; bleeding disorder; bleeding time; clinical article; controlled study; exon; familial disease; female; gene amplification; gene mutation; gene sequence; heterozygosity; human; laboratory test; male; molecular weight; nucleotide sequence; pathogenesis; polymerase chain reaction; priority journal; thrombocyte aggregation; thrombocyte count; thrombocytopenia; von Willebrand disease |
顯示於: | 醫學院附設醫院 (臺大醫院) |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。