Article
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Cells - 14 Oct 2022
Bastida José M, Malvestiti Stefano, Boeckelmann Doris, Palma-Barqueros Verónica, Wolter Mira, Lozano María L, Glonnegger Hannah, Benito Rocío, Zaninetti Carlo, Sobotta Felix, Schilling Freimut H, Morgan Neil V, Freson Kathleen, Rivera José, Zieger Barbara
Abstract excerpt
The GATA1 transcription factor is essential for normal erythropoiesis and megakaryocytic differentiation. Germline GATA1 pathogenic variants in the N-terminal zinc finger (N-ZF) are typically associated with X-linked thrombocytopenia, platelet dysfunction, and dyserythropoietic anemia. A few variants in the C-terminal ZF (C-ZF) domain are described with normal platelet count but altered platelet function as the...
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