Figure 2.

The affected mother and child both carry the heterozygous mutation p.Val218Ala in CEBPE. (A) Sanger chromatograms of the core pedigree covering the mutated nucleotide (framed gray) in CEBPE. (B) Protein model including domain structure of C/EBPε (basic leucine zipper: dark blue; basic subunit: light blue; and leucine zipper: orange) showing the relative location of the identified mutation in relation to the homozygous frameshift mutations. The length of the altered reading frames is indicated in red. (C) Confocal images of healthy control and patient granulocytes stained for C/EBPε (green, scale bar: 20 µm). Stains were performed in triplicates. (D) Line graphs of C/EBPε and DAPI show that in patients’ cells the center of the nucleus lacks C/EBPε which rather localizes to the perinuclear region (blots were done with ImageJ).