Article
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Leukemia - 1 Oct 2020
Kozyra Emilia J, Pastor Victor B, Lefkopoulos Stylianos, Sahoo Sushree S, Busch Hauke, Voss Rebecca K, Erlacher Miriam, Lebrecht Dirk, Szvetnik Enikoe A, Hirabayashi Shinsuke, Pasaulienė Ramunė, Pedace Lucia, Tartaglia Marco, Klemann Christian, Metzger Patrick, Boerries Melanie, Catala Albert, Hasle Henrik, de Haas Valerie, Kállay Krisztián, Masetti Riccardo, De Moerloose Barbara, Dworzak Michael, Schmugge Markus, Smith Owen, Starý Jan, Mejstrikova Ester, Ussowicz Marek, Morris Emma, Singh Preeti, Collin Matthew, Derecka Marta, Göhring Gudrun, Flotho Christian, Strahm Brigitte, Locatelli Franco, Niemeyer Charlotte M, Trompouki Eirini, Wlodarski Marcin W
Abstract excerpt
Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the...
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