AI Article Synopsis
- von Willebrand disease (VWD) caused by the R1205H mutation presents specific and consistent clinical and lab features, mainly affecting individuals diagnosed with moderate to severe type 1 VWD.
- Researchers investigated seven families with this mutation and found that heterozygosity for R1205H was the most common genetic defect leading to type 1 VWD at their center.
- A notable finding was that affected individuals often had a severe lab phenotype and a milder bleeding history than anticipated, alongside the absence of abnormal ultralarge high molecular weight multimers in their plasma, and the R1205H mutation likely arises independently, suggesting it doesn't stem from a single genetic source.
Article Abstract
von Willebrand disease (VWD) caused by the R1205H mutation has distinct and reproducible clinical and laboratory features. This report describes the phenotypic and molecular investigation of seven kindreds with VWD Vicenza R1205H. All affected individuals have historically been diagnosed with moderate to severe type 1 VWD. Amongst all families with highly penetrant type 1 VWD investigated at our centre, heterozygosity for the R1205H mutation was found to be the most common underlying molecular defect. A severe laboratory phenotype associated with a bleeding history that was milder than expected was commonly observed, consistent with previous published case reports; however, abnormal ultralarge high molecular weight multimers were not detected in resting plasma samples. We also provide evidence that the R1205H mutation may arise de novo--evidence that a common genetic origin for this mutation is unlikely.
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| http://dx.doi.org/10.1111/j.1365-2141.2006.06251.x | DOI Listing |
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