PMC4712426_01
Features of the patient. (A) Multiple warts on both feet of the patient. (B) Lymphedema in both lower legs of the patient. (C) Lymphoscintigraphy of the patient revealed the absence of the main lymphatic tract after 2 hours, suggesting hypoplasia of the lymphatics.
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Additionally, her legs were edematous with multiple warts on her feet (Fig. 1A and 1B). Her chest and abdominal computed tomography showed hepatosplenomegaly and scanty bilateral pleural effusion, while her audiometric test revealed high frequency sensorineural deafness, and lymphoscintigraphy demonstrated main lymphatic tract hypoplasia in both legs (Fig. 1C).
Sequence analysis of the patient and the patient's brother. GATA2 gene sequence analysis of the patient's brother (A) and patient (B). Deletion of the 1,054th base (T) in exon 7 resulted in a frame-shift mutation (p.Cys352Valfs*35) in the patient. The arrow indicates the 1,054th base (T). The patient's only brother did not harbor the GATA2 gene mutation.
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Direct DNA sequencing analysis of the GATA2 gene of the patient demonstrated a deletion of the 1,054th base (T) in exon 7, resulting in a frame-shift mutation (p.Cys352Valfs*35) in the zinc finger (ZF)-2 domain that was a novel variation with respect to previous cases of Emberger syndrome (Fig. 2).