title: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
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.
authors: Medical Genetics Unit, Biomedical Sciences, St. George's University of London, London, UK.
authors: Pia
authors: P
authors: Ostergaard
authors: Michael A
authors: MA
authors: Simpson
authors: Fiona C
authors: FC
authors: Connell
authors: Colin G
authors: CG
authors: Steward
authors: Glen
authors: G
authors: Brice
authors: Wesley J
authors: WJ
authors: Woollard
authors: Dimitra
authors: D
authors: Dafou
authors: Tatjana
authors: T
authors: Kilo
authors: Sarah
authors: S
authors: Smithson
authors: Peter
authors: P
authors: Lunt
authors: Victoria A
authors: VA
authors: Murday
authors: Shirley
authors: S
authors: Hodgson
authors: Russell
authors: R
authors: Keenan
authors: Daniela T
authors: DT
authors: Pilz
authors: Ines
authors: I
authors: Martinez-Corral
authors: Taija
authors: T
authors: Makinen
authors: Peter S
authors: PS
authors: Mortimer
authors: Steve
authors: S
authors: Jeffery
authors: Richard C
authors: RC
authors: Trembath
authors: Sahar
authors: S
authors: Mansour
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics* / Q000378:metabolism; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D005838:Genotype; D057895:Haploinsufficiency; D006412:Hematopoietic Stem Cells / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008209:Lymphedema / Q000151:congenital* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D013577:Syndrome
chemical_list: D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human