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

Ostergaard, Pia, Simpson, Michael A., Connell, Fiona C., Steward, Colin G., Brice, Glen, Woollard, Wesley J., Dafou, Dimitra, Kilo, Tatjana, Smithson, Sarah, Lunt, Peter, Murday, Victoria A., Hodgson, Shirley, Keenan, Russell, Pilz, Daniela T., Martinez-Corral, Ines, Makinen, Taija, Mortimer, Peter S., Jeffery, Steve, Trembath, Richard C. and Mansour, Sahar 2011. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics 43 (10) , pp. 929-931. 10.1038/ng.923

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH301 Biology Q Science > QH Natural history > QH426 Genetics
Publisher:	Nature Publishing Group
ISSN:	1061-4036
Last Modified:	06 Jul 2023 01:39
URI:	https://orca.cardiff.ac.uk/id/eprint/49357

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