Article
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.
American journal of human genetics - 6 Nov 2025
Karaghiannis Valéna, Schmitt Loïc, Chesnel Franck, Gautier Emilie-Fleur, Leduc Marjorie, Le Gall Morgane, Idriss Salam, Couvé Sophie, Barlier Anne, Sarrabay Guillaume, Maaziz Nada, Cassinat Bruno, Legros Laurence, Thibaud Vincent, Richard Stéphane, Girodon François, Miro Julie, Tuffery-Giraud Sylvie, Arlot Yannick, Gardie Betty
Abstract excerpt
This study explores the impact of mutations in the exon 2 of the von Hippel-Lindau (VHL) gene, associated with erythrocytosis or von Hippel-Lindau disease. We analyzed 15 missense and synonymous genetic variants to assess their effects on splicing and VHL protein stability. Using in silico predictions and functional assays, we found that some specific mutations impact splicing and reduce protein stability,...
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