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

Ostergaard, P; Simpson, MA; Connell, FC; Steward, CG; Brice, G; Woollard, WJ; Dafou, D; Kilo, T; Smithson, S; Lunt, P; et al. Ostergaard, P; Simpson, MA; Connell, FC; Steward, CG; Brice, G; Woollard, WJ; Dafou, D; Kilo, T; Smithson, S; Lunt, P; Murday, VA; Hodgson, S; Keenan, R; Pilz, DT; Martinez-Corral, I; Makinen, T; Mortimer, PS; Jeffery, S; Trembath, RC; Mansour, S (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). NATURE GENETICS, 43 (10). 929 - 931 (3). ISSN 1061-4036 https://doi.org/10.1038/ng.923
SGUL Authors: Hodgson, Shirley Victoria Jeffery, Stephen Mortimer, Peter Sydney Ostergaard, Pia Mansour, Sahar Brice, Glen Worthington

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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
Additional Information: PubMed ID: 21892158
Keywords: Adolescent, Adult, Alleles, Child, Female, GATA2 Transcription Factor, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genotype, Haploinsufficiency, Hematopoietic Stem Cells, Humans, Infant, Newborn, Leukemia, Myeloid, Acute, Lymphedema, Male, Middle Aged, Mutation, Phenotype, Syndrome, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, MYELODYSPLASIA, CEBPA
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: NATURE GENETICS
ISSN: 1061-4036
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Dates:
DateEvent
1 October 2011Published
Web of Science ID: WOS:000295316200005
URI: http://openaccess.sgul.ac.uk/id/eprint/100980
Publisher's version: https://doi.org/10.1038/ng.923

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