Von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.

ABSTRACT:

Background

von Willebrand factor (VWF) variant c.2771G>A; p.R924Q has been described as a benign polymorphism or a possible marker for a null allele and been associated with mild bleeding phenotypes. It was identified in several patients in recent type 1 von Willebrand disease (VWD) studies.

Objectives

To determine whether the p.R924Q allele contributes to reduced VWF levels and type 1 VWD.

Methods

One thousand one hundred and fifteen healthy controls and 148 index cases from the MCMDM-1VWD study were genotyped for c.2771G>A; VWF and FVIII levels were analyzed in ABO blood group stratified individuals and the p.R924Q variant was expressed in 293 EBNA cells.

Results

c.2771G>A was present in six index cases, five of whom had a second VWF variant which probably co

SUBMITTER: Hickson N 

PROVIDER: S-EPMC3856360 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature