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

P Ostergaard, MA Simpson, FC Connell, CG Steward, G Brice, WJ Woollard, D Dafou, T Kilo, S Smithson, P Lunt, VA Murday, S Hodgson, R Keenan, DT Pilz, I Martinez-Corral, T Makinen, PS Mortimer, S Jeffery, RC Trembath, S Mansour

Research output: Contribution to journalArticle (Academic Journal)peer-review

330 Citations (Scopus)

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.
Translated title of the contributionMutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Original languageEnglish
Pages (from-to)929 - 931
Number of pages3
JournalNature Genetics
Volume43
DOIs
Publication statusPublished - Oct 2011

Bibliographical note

Other identifier: 21892158

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