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Spectrum of the mutations in Bernard-Soulier syndrome. | LitMetric

AI Article Synopsis

  • - Bernard-Soulier syndrome (BSS) is a rare genetic bleeding disorder caused by defects in the GPIb-IX-V complex, impacting platelets' ability to adhere to blood vessel walls, primarily due to mutations in the genes GP1BA, GP1BB, and GP9.
  • - An International Consortium was formed to gather data on BSS, successfully enrolling and genotyping 132 families, in addition to 79 families from existing literature, culminating in the analysis of 211 families.
  • - The research identified 112 different mutations, including 22 new variants, with a notable concentration of homozygous mutations and founder effects in certain regions, providing crucial insights to enhance diagnosis and treatment of the disorder.

Article Abstract

Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb-IX-V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management.

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Source
http://dx.doi.org/10.1002/humu.22607DOI Listing

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