A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A

被引：0

作者：

Choi, Seung Jun ^{[2
]}

Lee, Eun-Young ^{[1
,2
]}

Kim, Hee-Jin ^{[3
]}

Lee, Kyung-A ^{[2
]}

Song, Jaewoo ^{[2
]}

Choi, Jong-Rak ^{[2
]}

Yoo, Jong-Ha ^{[1
,2
]}

机构：

[1] Natl Hlth Insurance Corp Ilsan Hosp, Dept Lab Med, Goyang, South Korea

[2] Yonsei Univ, Coll Med, Dept Lab Med, Seoul 120752, South Korea

[3] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul, South Korea

来源：

ANNALS OF CLINICAL AND LABORATORY SCIENCE | 2012年 / 42卷 / 01期

关键词：

von Willebrand factor; von Willebrand disease; missense mutation; VARIANT VONWILLEBRANDS DISEASE; MULTIMERIC COMPOSITION; CLASSIFICATION; SUBTYPES; DDAVP;

D O I：

暂无

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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.

引用

页码：98 / 102

页数：5

共 11 条

[11] Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor [J].

Sadler, J. E. ;

Budde, U. ;

Eikenboom, J. C. J. ;

Favaloro, E. J. ;

Hill, F. G. H. ;

Holmberg, L. ;

Ingerslev, J. ;

Lee, C. A. ;

Lillicrap, D. ;

Mannucci, M. ;

Mazurier, C. ;

Meyer, D. ;

Nichols, W. L. ;

Nishino, M. ;

Peake, I. R. ;

Rodeghiero, F. ;

Schneppenheim, R. ;

Ruggeri, Z. M. ;

Srivastava, A. ;

Montgomery, R. R. ;

Federici, A. B. .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2006, 4 (10) :2103-2114

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