Preliminary characterization of VWF gene variants in patients with type 3 von Willebrand disease at the national institute of hematology and blood transfusion by next-generation sequencing
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Abstract
Type 3 von Willebrand disease (vWD type 3) is the most severe form of Von Willebrand disease and commonly associated with loss-of-function variants in the VWF gene. However, the data regarding the genotypic characteristics of patients with vWD type 3 in Vietnam is still limited. We performed sequencing of all 52 exons of the VWF gene in 15 patients with vWD type 3 to identify genetic variants and evaluated their pathogenicity according to the 2015 ACMG guidelines in combination with the ClinVar database. A total of 12 distinct VWF gene variants were identified, including 4 pathogenic variants, 6 likely pathogenic variants, and 2 variants of uncertain significance. 7 of the 12 detected variants had been previously reported in ClinVar. Our findings contribute to the understanding of the VWF variant spectrum in Vietnamese patients with vWD type 3 and may support genetic counseling for affected individuals and their family members
Article Details
Keywords
Type 3 von Willebrand disease, VWF gene variants, inherited bleeding disorder, Next-Generation Sequencing
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