Mutations in GATA2 Cause Primary Lymphedema Associated with a Predisposition to Acute Myeloid Leukemia (Emberger Syndrome)

Overview

Journal Nat Genet

Specialty Genetics

Date 2011 Sep 6

PMID 21892158

Citations 247

Authors

Pia Ostergaard

Michael A Simpson

Fiona C Connell

Colin G Steward

Glen Brice

Wesley J Woollard

Dimitra Dafou

Tatjana Kilo

Sarah Smithson

Peter Lunt

Victoria A Murday

Shirley Hodgson

Russell Keenan

Daniela T Pilz

Ines Martinez-Corral

Taija Makinen

Peter S Mortimer

Steve Jeffery

Richard C Trembath

Sahar Mansour

Affiliations

Soon will be listed here.

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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