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

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.