Literature DB >> 21892158

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

Pia Ostergaard1, 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.   

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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Year:  2011        PMID： 21892158     DOI： 10.1038/ng.923

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

Authors:  W J Song; M G Sullivan; R D Legare; S Hutchings; X Tan; D Kufrin; J Ratajczak; I C Resende; C Haworth; R Hock; M Loh; C Felix; D C Roy; L Busque; D Kurnit; C Willman; A M Gewirtz; N A Speck; J H Bushweller; F P Li; K Gardiner; M Poncz; J M Maris; D G Gilliland
Journal:  Nat Genet       Date:  1999-10       Impact factor: 38.330

2.  Gata2 is required for the development of inner ear semicircular ducts and the surrounding perilymphatic space.

Authors:  Maarja Haugas; Kersti Lilleväli; Janne Hakanen; Marjo Salminen
Journal:  Dev Dyn       Date:  2010-09       Impact factor: 3.780

3.  Interaction between GATA and the C/EBP family of transcription factors is critical in GATA-mediated suppression of adipocyte differentiation.

Authors:  Qiang Tong; Judy Tsai; Guo Tan; Gökhan Dalgin; Gökhan S Hotamisligil
Journal:  Mol Cell Biol       Date:  2005-01       Impact factor: 4.272

4.  GATA Transcription Factors and Cancer.

Authors:  Rena Zheng; Gerd A Blobel
Journal:  Genes Cancer       Date:  2010-12

5.  Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

Authors:  Sahar Mansour; Fiona Connell; Colin Steward; Pia Ostergaard; Glen Brice; Sarah Smithson; Peter Lunt; Steve Jeffery; Inderjeet Dokal; Tom Vulliamy; Brenda Gibson; Shirley Hodgson; Sally Cottrell; Louise Kiely; Lorna Tinworth; Kamini Kalidas; Ghulam Mufti; Jackie Cornish; Russell Keenan; Peter Mortimer; Victoria Murday
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

6.  Mutation of CEBPA in familial acute myeloid leukemia.

Authors:  Matthew L Smith; Jamie D Cavenagh; T Andrew Lister; Jude Fitzgibbon
Journal:  N Engl J Med       Date:  2004-12-02       Impact factor: 91.245

7.  An early haematopoietic defect in mice lacking the transcription factor GATA-2.

Authors:  F Y Tsai; G Keller; F C Kuo; M Weiss; J Chen; M Rosenblatt; F W Alt; S H Orkin
Journal:  Nature       Date:  1994-09-15       Impact factor: 49.962

8.  Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia.

Authors:  Su-Jiang Zhang; Li-Yuan Ma; Qiu-Hua Huang; Guo Li; Bai-Wei Gu; Xiao-Dong Gao; Jing-Yi Shi; Yue-Ying Wang; Li Gao; Xun Cai; Rui-Bao Ren; Jiang Zhu; Zhu Chen; Sai-Juan Chen
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-04       Impact factor: 11.205

9.  Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Authors:  Rachel Emma Dickinson; Helen Griffin; Venetia Bigley; Louise N Reynard; Rafiqul Hussain; Muzlifah Haniffa; Jeremy H Lakey; Thahira Rahman; Xiao-Nong Wang; Naomi McGovern; Sarah Pagan; Sharon Cookson; David McDonald; Ignatius Chua; Jonathan Wallis; Andrew Cant; Michael Wright; Bernard Keavney; Patrick F Chinnery; John Loughlin; Sophie Hambleton; Mauro Santibanez-Koref; Matthew Collin
Journal:  Blood       Date:  2011-07-15       Impact factor: 22.113

10.  GATA-2 regulates granulocyte-macrophage progenitor cell function.

Authors:  Neil P Rodrigues; Ashleigh S Boyd; Cristina Fugazza; Gillian E May; Yanping Guo; Alex J Tipping; David T Scadden; Paresh Vyas; Tariq Enver
Journal:  Blood       Date:  2008-10-07       Impact factor: 22.113
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  193 in total

Review 1.  GATA2 deficiency.

Authors:  Amy P Hsu; Lisa J McReynolds; Steven M Holland
Journal:  Curr Opin Allergy Clin Immunol       Date:  2015-02

2.  Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Authors:  Jan Kazenwadel; Genevieve A Secker; Yajuan J Liu; Jill A Rosenfeld; Robert S Wildin; Jennifer Cuellar-Rodriguez; Amy P Hsu; Sarah Dyack; Conrad V Fernandez; Chan-Eng Chong; Milena Babic; Peter G Bardy; Akiko Shimamura; Michael Y Zhang; Tom Walsh; Steven M Holland; Dennis D Hickstein; Marshall S Horwitz; Christopher N Hahn; Hamish S Scott; Natasha L Harvey
Journal:  Blood       Date:  2011-12-06       Impact factor: 22.113

Review 3.  The lymphatic vasculature in disease.

Authors:  Kari Alitalo
Journal:  Nat Med       Date:  2011-11-07       Impact factor: 53.440

4.  GATA2 mutations lead to MDS and AML.

Authors:  R Katherine Hyde; P Paul Liu
Journal:  Nat Genet       Date:  2011-09-28       Impact factor: 38.330

Review 5.  Anemia of Central Origin.

Authors:  Kazusa Ishii; Neal S Young
Journal:  Semin Hematol       Date:  2015-07-09       Impact factor: 3.851

6.  Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.

Authors:  Daria V Babushok; Monica Bessler; Timothy S Olson
Journal:  Leuk Lymphoma       Date:  2015-12-23

7.  Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.

Authors:  Zhijie Wu; Shouguo Gao; Carrie Diamond; Sachiko Kajigaya; Jinguo Chen; Rongye Shi; Cindy Palmer; Amy P Hsu; Katherine R Calvo; Dennis D Hickstein; Steven M Holland; Neal S Young
Journal:  Blood Adv       Date:  2020-06-23

8.  Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

Authors:  Csaba Bödör; Aline Renneville; Matthew Smith; Aurélie Charazac; Sameena Iqbal; Pascaline Etancelin; Jamie Cavenagh; Michael J Barnett; Karolina Kramarzová; Biju Krishnan; András Matolcsy; Claude Preudhomme; Jude Fitzgibbon; Carolyn Owen
Journal:  Haematologica       Date:  2012-01-22       Impact factor: 9.941

Review 9.  Warts and all: human papillomavirus in primary immunodeficiencies.

Authors:  Jennifer W Leiding; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2012-10-01       Impact factor: 10.793

10.  High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

Authors:  Marlène Pasquet; Christine Bellanné-Chantelot; Suzanne Tavitian; Naïs Prade; Blandine Beaupain; Olivier Larochelle; Arnaud Petit; Pierre Rohrlich; Christophe Ferrand; Eric Van Den Neste; Hélène A Poirel; Thierry Lamy; Marie Ouachée-Chardin; Véronique Mansat-De Mas; Jill Corre; Christian Récher; Geneviève Plat; Françoise Bachelerie; Jean Donadieu; Eric Delabesse
Journal:  Blood       Date:  2012-12-06       Impact factor: 22.113
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