Identification of 2 distinct GATA2 mutations in patient J384. (A) Bidirectional sequencing of patient sample J384 revealed 2 distinct sequence variants in both the forward (shown here) and reverse strands. Sequencing of 40 individual colony picks after subcloning revealed that each sequence variant occurred in a trans configuration (CP9 and CP13 are shown here as examples). In addition, 10% of colony picks (ie, CP32) revealed a wild-type sequence, indicating that at least 1 of the 2 variants was a somatic event. (B) Schematic representation of the GATA2 gene highlighting the proposed germline and somatic mutations identified in patient J384. Both mutations are present in coding region 3, which translates to the zinc finger 1 region of the protein.