Ontology highlight
ABSTRACT:
SUBMITTER: Hahn CN
PROVIDER: S-EPMC3184204 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Nature genetics 20110904 10
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 in a fourth MDS family. The resulting alterations reside within the second zinc finge ...[more]