P1644: Novel Variants in Gale Caused Syndromic Macrothrombocytopenia Disrupting Thrombopoiesis and Glycosylation

Inside-to-outside and back to the future of megakaryopoiesis

“…Marin-Quilez et al. [ 98 , 99 ] demonstrated that severe externalization of glycoprotein Ib-alpha (GPIbα) defects is responsible for the altered platelet production in patients with thrombocytopenia associated with variants of the GALE gene, which encodes UDP-galactose-4-epimerase, an enzyme of galactose metabolism and glycosylation pathways critical to megakaryocyte development [ 100 ]. These data further emphasize the critical role of glycosylation in regulating both megakaryocyte and platelet functions [ 27 ].…”