Articles

A RARE CASE OF EMBERGER SYNDROME CAUSED BY A DE NOVO MUTATION IN THE GATA2 GENE

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Abstract

Emberger syndrome, or primary lymphedema with myelodysplasia, is a severe rare disease characterized by early primary lymphedema and blood anomalies including acute childhood leukemia. The syndrome is associated with heterozygous mutations in the GATA2 gene. We report on a 13-year-old boy who developed lymphedema of the right lower limb at age 6 years which was accompanied by severe panleukopenia and repeated episodes of erysipelas. The suspicion of Emberger syndrome was confirmed by detection of a new germinal line GATA2 mutation c.414_417del, p.Ser139Cysfs*78. Clinical treatment included a bone marrow transplant from the father. This case is one of a very limited number of Emberger syndrome cases documented in the literature, and genetic testing proved fundamental for definition of the condition and its association with a de novo mutation in the GATA2 which is reported here for the first time.

Keywords: Emberger syndrome, primary lymphedema, GATA2, de novo mutation

How to Cite:

Michelini, S., Cardone, M., Haag O Agga, M., Bruson, A., Maltese, P., Bonizzato, A. & Bertelli, M., (2016) “A RARE CASE OF EMBERGER SYNDROME CAUSED BY A DE NOVO MUTATION IN THE GATA2 GENE”, Lymphology 49(1), 15-20.