학술논문
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Document Type
Article
Author
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; Mansour, Sahar
Source
Subject
*TRANSCRIPTION factors
*GENETIC regulation
*LYMPHEDEMA
*ACUTE myeloid leukemia
*DISEASE susceptibility
*GENETICS
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Language
ISSN
1061-4036
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. [ABSTRACT FROM AUTHOR]