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

Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Female
  • GATA2 Transcription Factor / genetics*
  • GATA2 Transcription Factor / metabolism
  • Gene Expression Regulation, Neoplastic
  • Genetic Predisposition to Disease*
  • Genotype
  • Haploinsufficiency
  • Hematopoietic Stem Cells / metabolism
  • Humans
  • Infant, Newborn
  • Leukemia, Myeloid, Acute / genetics*
  • Lymphedema / congenital*
  • Lymphedema / genetics
  • Male
  • Middle Aged
  • Mutation
  • Phenotype
  • Syndrome

Substances

  • GATA2 Transcription Factor
  • GATA2 protein, human

Associated data

  • RefSeq/NM_032638