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

doi:10.1038/ng.923

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

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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 contribution	Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Original language	English
Pages (from-to)	929 - 931
Number of pages	3
Journal	Nature Genetics
Volume	43
DOIs	https://doi.org/10.1038/ng.923
Publication status	Published - Oct 2011

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Other identifier: 21892158

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Ostergaard, P., Simpson, MA., Connell, FC., Steward, CG., Brice, G., Woollard, WJ., Dafou, D., Kilo, T., Smithson, S., Lunt, P., Murday, VA., Hodgson, S., Keenan, R., Pilz, DT., Martinez-Corral, I., Makinen, T., Mortimer, PS., Jeffery, S., Trembath, RC., & Mansour, S. (2011). Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nature Genetics, 43, 929 - 931. https://doi.org/10.1038/ng.923

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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.",

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

note = "Other identifier: 21892158",

year = "2011",

month = oct,

doi = "10.1038/ng.923",

language = "English",

volume = "43",

pages = "929 -- 931",

journal = "Nature Genetics",

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Ostergaard, P, Simpson, MA, Connell, FC, Steward, CG, Brice, G, Woollard, WJ, Dafou, D, Kilo, T, Smithson, S, Lunt, P, Murday, VA, Hodgson, S, Keenan, R, Pilz, DT, Martinez-Corral, I, Makinen, T, Mortimer, PS, Jeffery, S, Trembath, RC & Mansour, S 2011, 'Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)', Nature Genetics, vol. 43, pp. 929 - 931. https://doi.org/10.1038/ng.923

TY - JOUR

T1 - Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

AU - Ostergaard, P

AU - Simpson, MA

AU - Connell, FC

AU - Steward, CG

AU - Brice, G

AU - Woollard, WJ

AU - Dafou, D

AU - Kilo, T

AU - Smithson, S

AU - Lunt, P

AU - Murday, VA

AU - Hodgson, S

AU - Keenan, R

AU - Pilz, DT

AU - Martinez-Corral, I

AU - Makinen, T

AU - Mortimer, PS

AU - Jeffery, S

AU - Trembath, RC

AU - Mansour, S

N1 - Other identifier: 21892158

PY - 2011/10

Y1 - 2011/10

N2 - 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.

AB - 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.

U2 - 10.1038/ng.923

DO - 10.1038/ng.923

M3 - Article (Academic Journal)

C2 - 21892158

SN - 1546-1718

VL - 43

SP - 929

EP - 931

JO - Nature Genetics

JF - Nature Genetics

ER -

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

Abstract

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