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medRxiv PreprintsInternational9 October 2026

Two novel missense variants altering cytosolic phospholipase A2α structural dynamics partially affect platelet signaling pathways associated with bleeding among Glanzmann thrombasthenia patients from two unrelated south Indian families

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Cytosolic phospholipase A2 (cPLA2), encoded by PLA2G4A plays a crucial role in platelet activation through thromboxane A2 biosynthesis. Defects in this pathway can lead to bleeding disorders; however, the precise role of cPLA2 in Glanzmann thrombasthenia (GT) or GT-like syndromes remains poorly understood. The current study emerged from a fortuitous discovery of novel PLA2G4A variants, p.Asp455Val (D455V) and p.Glu119Lys (E119K), among 3 GT patients from two unrelated families in south India. We envisaged a hypothesis to identify a hitherto unknown role of cPLA2 that could be attributed to GT-
— medRxiv Preprints
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