Int J Hematol. 2000 Dec;72(4):512-6.

A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease.

Wang Y, Zhang J, Zhang W, Wan H, Ruan C.

Source

Thrombosis and Hemostasis Research Unit, Jiangsu Institute of Hematology, First Affiliated Hospital of Suzhou Medical College, Suzhou, People's Republic of China.

Abstract

Two patients (from the same family) with a bleeding disorder were diagnosed with type 2A von Willebrand disease (vWD). The 28th exon of the von Willebrand factor (vWF) gene was obtained by polymerase chain reaction and then screened by denaturing gradient gel electrophoresis. The fragments displaying abnormal melting behavior were directly sequenced. A heterozygous C-->A substitution changing alanine 1500 to glutamic acid at position 4750 in the A2 domain of vWF was found. The structure of recombinant A1500E vWF within transfected COS-7 cells and the secretion of high-molecular-weight (HMW) multimers were similar to wild-type vWF. HMW forms of vWF multimers were absent in plasma but present in platelets. The mutation described here corresponds to the group II type 2A vWD characterized by normal secretion of all vWF multimers.

PMID:: 11197223; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

OhioLINK Electronic Journal Center

Medical

Supplemental Content

Save items

Related citations in PubMed

[Mutation (Ala737-->Glu) in type 2A von Willebrand disease]. [Zhonghua Xue Ye Xue Za Zhi. 1999]
[Mutation (Ala737-->Glu) in type 2A von Willebrand disease].
Wang Y, Zhang J, Wan H. Zhonghua Xue Ye Xue Za Zhi. 1999 Mar; 20(3):117-9.
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease. [Haemophilia. 2008]
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.
Kashiwagi T, Matsushita T, Ito Y, Hirashima K, Sanda N, Fujimori Y, Yamada T, Okumura K, Takagi A, Murate T, et al. Haemophilia. 2008 May; 14(3):556-63. Epub 2008 Apr 7.
Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease. [Thromb Haemost. 2006]
Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease.
Hommais A, Stépanian A, Fressinaud E, Mazurier C, Pouymayou K, Meyer D, Girma JP, Ribba AS. Thromb Haemost. 2006 May; 95(5):776-81.
Review Molecular genetics of type 2 von Willebrand disease. [Int J Hematol. 2002]
Review Molecular genetics of type 2 von Willebrand disease.
Fressinaud E, Mazurier C, Meyer D. Int J Hematol. 2002 Jan; 75(1):9-18.
Review Molecular diagosis of von Willebrand disease. [Int J Hematol. 2002]
Review Molecular diagosis of von Willebrand disease.
Ruan C. Int J Hematol. 2002 Aug; 76 Suppl 2:145-8.

See reviews... See all...

Cited by 1 PubMed Central article

Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease. [PLoS One. 2012]
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease.
Dong J, Zhao X, Shi S, Ma Z, Liu M, Wu Q, Ruan C, Dong N. PLoS One. 2012; 7(3):e33263. Epub 2012 Mar 27.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease.
A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease.
Int J Hematol. 2000 Dec ;72(4):512-6.

PubMed
Glucuronidation of resveratrol, a natural product present in grape and wine, in ...
Glucuronidation of resveratrol, a natural product present in grape and wine, in the human liver.
Xenobiotica. 2000 Nov ;30(11):1047-54.

PubMed
Analysis of the spin exchange interactions in the three phases of vanadium pyrop...
Analysis of the spin exchange interactions in the three phases of vanadium pyrophosphate, (VO)2P2O7, in terms of spin-orbital interaction energy.
Inorg Chem. 2000 Aug, 7 ;39(16):3599-604.

PubMed
New polymorphisms in the IL-10 promoter region.
New polymorphisms in the IL-10 promoter region.
Genes Immun. 2000 Feb ;1(3):231-3.

PubMed
[Intra- and intercellular Ca(2+)-signal transduction].
[Intra- and intercellular Ca(2+)-signal transduction].
Verh K Acad Geneeskd Belg. 2000 ;62(6):501-63.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: