The Korean journal of internal medicine

The Korean Association of Internal Medicine (대한내과학회)
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First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation

  • Seo, Sang Kyung (Department of Internal Medicine, Kyungpook National University School of Medicine) ;
  • Kim, Kyu Yeun (Department of Internal Medicine, Kyungpook National University School of Medicine) ;
  • Han, Seo Ae (Department of Internal Medicine, Kyungpook National University School of Medicine) ;
  • Yoon, Joon Seok (Department of Internal Medicine, Kyungpook National University School of Medicine) ;
  • Shin, Sang-Yong (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sohn, Sang Kyun (Department of Internal Medicine, Kyungpook National University School of Medicine) ;
  • Moon, Joon Ho (Department of Internal Medicine, Kyungpook National University School of Medicine)
  • Received : 2014.06.18
  • Accepted : 2014.10.15
  • Published : 2016.01.01
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Abstract

Keywords

References

  1. Mansour S, Connell F, Steward C, et al. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A 2010;152A:2287-2296. https://doi.org/10.1002/ajmg.a.33445
  2. Ostergaard P, Simpson MA, Connell FC, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 2011;43:929-931. https://doi.org/10.1038/ng.923
  3. Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (Mono-MAC) syndrome. Blood 2011;118:2653-2655. https://doi.org/10.1182/blood-2011-05-356352
  4. Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 2011;43:1012-1017. https://doi.org/10.1038/ng.913
  5. Kazenwadel J, Secker GA, Liu YJ, et al. 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. Blood 2012;119:1283-1291. https://doi.org/10.1182/blood-2011-08-374363

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