Article
Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.
Thrombosis and haemostasis - 1 Jul 2022
Zieger Barbara, Boeckelmann Doris, Anani Waseem, Falet Hervé, Zhu Jieqing, Glonnegger Hannah, Full Hermann, Andresen Felicia, Erlacher Miriam, Lausch Ekkehart, Fels Salome, Strahm Brigitte, Lang Peter, Hoffmeister Karin M
Abstract excerpt
The GNE gene encodes an enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid, a precursor of sialic acids. GNE mutations are classically associated with Nonaka myopathy and sialuria, following an autosomal recessive and autosomal dominant inheritance pattern. Reports show that single GNE variants cause severe thrombocytopenia without muscle weakness. Using panel sequencing, we...
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