First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation
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Emberger syndrome is characterized by congenital deafness and primary lymphedema of the lower limbs, and is associated with a predisposition to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Associated phenotypes are also known to present in various ways, including hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing, recurrent cellulites in the affected limb, and generalized warts [1]. GATA2 plays a critical role in the development of the lymphatics and hematopoietic systems, and haploinsufficiency of GATA2 is known to predispose to MDS/AML in this syndrome [2]. Here, we report the first Korean patient with a novel GATA2 gene mutation bearing the characteristic features of Emberger syndrome, along with profound peripheral monocytopenia and B/natural killer (NK)-cell lymphocytopenia.Emberger syndrome is characterized by congenital deafness and primary lymphedema of the lower limbs, and is associated with a predisposition to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Associated phenotypes are also known to present in various ways, including hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing, recurrent cellulites in the affected limb, and generalized warts [1]. GATA2 plays a critical role in the development of the lymphatics and hematopoietic systems, and haploinsufficiency of GATA2 is known to predispose to MDS/AML in this syndrome [2]. Here, we report the first Korean patient with a novel GATA2 gene mutation bearing the characteristic features of Emberger syndrome, along with profound peripheral monocytopenia and B/natural killer (NK)-cell lymphocytopenia.
Abstract
Emberger syndrome is characterized by congenital deafness and primary lymphedema of the lower limbs, and is associated with a predisposition to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Associated phenotypes are also known to present in various ways, including hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing, recurrent cellulites in the affected limb, and generalized warts [1]. GATA2 plays a critical role in the development of the lymphatics and hematopoietic systems, and haploinsufficiency of GATA2 is known to predispose to MDS/AML in this syndrome [2]. Here, we report the first Korean patient with a novel GATA2 gene mutation bearing the characteristic features of Emberger syndrome, along with profound peripheral monocytopenia and B/natural killer (NK)-cell lymphocytopenia.
참고문헌 (5)
- Mansour S, "Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases", Am J Med Genet A, 152A, pp.2287~2296 (2010)
- Ostergaard P, "Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia(Emberger syndrome)", Nat Genet, 43, pp.929~931 (2011)
- Hsu AP, "Mutations in GATA2are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (Mono-MAC) syndrome", Blood, 118, pp.2653~2655 (2011)
- Hahn CN, "Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia", Nat Genet, 43, pp.1012~1017 (2011)
- Kazenwadel J, "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, 2012, pp.119, 1283~1291