First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation

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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)

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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
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
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
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