The latter findings as well as clinical studies in vitro experiments on human tissues support the notion that both parental GATA2 genes are needed to produce levels of the GATA2 transcription factor sufficient for developing and maintaining normal levels of hematological stem and progenitor cells in humans. The transcription factors role in performing this function involves complex and incompletely understood interactions with a network of hematopoietic transcription factors including RUNX1, TAL1, MYB, GFI1, FLI1, LYL1, and PU.1. It is not exactly clear how reduced levels of GATA2 cause any of Emberger syndromes hematological disorders.The role of GATA2 in promoting the normal development of the lymphatic stem cells may be responsible for the other two key features of the Emberger syndrome. That is, failure to develop competent valves and/or vessels in the lymphatic system, it is proposed, is responsible for the lymphedema of Emberger syndrome while failure to generate the perilymphatic space around the inner ears semicircular canals, it is proposed, is responsible for the syndromes sensorineural hearing loss. Diagnosis
Examination of circulating blood cells, bone marrow cells, and the GATA2 nucleotide sequence of individuals with Emberger syndrome typically evidences abnormalities which are not distinctively different from those of individuals with other manifestations of GATA2 deficiency. The specific diagnosis of Emberger syndrome depends on detecting mutations of the GATA2 gene in a setting of clinical findings of hematological disorders, lymphedema, and neurosensory hearing loss.
Signs and symptoms
The age of onset of the Emberger syndrome is variable with rare individuals showing first symptoms such as lymphedema occurring in early infancy while others are symptomless or develop first symptoms in their middle and latter years. This variability can occur between members of the same family who are documented to have the same GATA2 mutation. The syndromes most common times of onset are infancy and early childhood. The syndrome may present with unexplained lymphedema, hearing loss, and/or hematological defects like  neutropenia, anemia, thrombocytopenia, and/or the circulation of abnormal blood cells. Other defects less commonly associated with and the syndrome include hypotelorism, epicanthic folds, hydrocele, webbed neck, and warts caused be human papillomavirus infection. In these case of relatively benign symptoms and signs, the syndrome commonly progresses rapidly or slowly to myelodysplastic syndrome followed by acute myeloid leukemia. Less commonly, Emberger syndrome presents with the myelodysplastic syndrome and/or acute myeloid leukemia. Genetics
GATA2 gene
GATA2 is a member of the evolutionarily conserved GATA transcription factor family of genes:: all tested vertebrates express six GATA genes. The human GATA2 gene is located on the long arm (or "q" arm) of chromosome 3 at position 21.3 (i.e. located at 3q21.3). In humans, it is expressed in hematologic cells at the stem cell and later progenitor cell stages of their development.