Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
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- 4 September 2011
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 43 (10) , 929-931
- https://doi.org/10.1038/ng.923
Abstract
We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome.Keywords
This publication has 16 references indexed in Scilit:
- Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndromeBlood, 2011
- GATA Transcription Factors and CancerGenes & Cancer, 2010
- Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new casesAmerican Journal of Medical Genetics Part A, 2010
- Gata2 is required for the development of inner ear semicircular ducts and the surrounding perilymphatic spaceDevelopmental Dynamics, 2010
- Detection of an interstitial 3q21.1‐q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasiaAmerican Journal of Medical Genetics Part A, 2009
- Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemiaProceedings of the National Academy of Sciences, 2008
- AGata2intronic enhancer confers its pan-endothelia-specific regulationDevelopment, 2007
- Interaction between GATA and the C/EBP Family of Transcription Factors Is Critical in GATA-Mediated Suppression of Adipocyte DifferentiationMolecular and Cellular Biology, 2005
- Mutation ofCEBPAin Familial Acute Myeloid LeukemiaNew England Journal of Medicine, 2004
- An early haematopoietic defect in mice lacking the transcription factor GATA-2Nature, 1994