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

P Ostergaard, MA Simpson, FC Connell, CG Steward… - Nature …, 2011 - nature.com
P Ostergaard, MA Simpson, FC Connell, CG Steward, G Brice, WJ Woollard, D Dafou, T Kilo…
Nature genetics, 2011nature.com
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.
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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