Article
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Nature genetics - 4 Sept 2011
Hahn Christopher N, Chong Chan-Eng, Carmichael Catherine L, Wilkins Ella J, Brautigan Peter J, Li Xiao-Chun, Babic Milena, Lin Ming, Carmagnac Amandine, Lee Young K, Kok Chung H, Gagliardi Lucia, Friend Kathryn L, Ekert Paul G, Butcher Carolyn M, Brown Anna L, Lewis Ian D, To L Bik, Timms Andrew E, Storek Jan, Moore Sarah, Altree Meryl, Escher Robert, Bardy Peter G, Suthers Graeme K, D'Andrea Richard J, Horwitz Marshall S, Scott Hamish S
Abstract excerpt
We report the discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene. We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon...
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