What is it about?
Two mutations were found in heterozygosis, p.P1648fs*45 and a novel missense mutation, the p.R1426C. p.Arg1426Cys would not be affecting the binding of GPIbα to A1 domain, whereas p.Pro1648fs*45 seems to modify the folding of A2 domain, and in this way, it would affect the binding to GPIbα and type VI collagen.
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Why is it important?
We believe that the combination of these two heterozygous mutations, in a child with O blood group, could result in a defective phenotype enhancer. These results may be due to the synergistic effect of the two mutations found, which appear to give a profile very similar to a homozygous state.
Perspectives
The bleeding history and the VWD2M laboratory phenotype, including the poor response to DDAVP, would be useful to alert physicians facing similar VWD cases.
Adriana Woods
Intituto de Medicina Experimental- CONICET- Academia Nacional de Medicina
Read the Original
This page is a summary of: Combined effects of two mutations in von Willebrand disease 2M phenotype, Research and Practice in Thrombosis and Haemostasis, December 2017, Wiley,
DOI: 10.1002/rth2.12067.
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