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Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

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1
Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London, UK.

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.

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PMID:
21892158
DOI:
10.1038/ng.923
[Indexed for MEDLINE]

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