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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.
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.
