Reduced expression of mutant allele in a patient with c.1017+572C>T. (A) Genomic sequences of GATA2 exons in patient 4.II.1 and her sister 4.II.5 indicate the phase of the SNPs and the mutation. M, K, and S refer to base calls of mixed nucleotide bases at a single site, A/C, G/T, and C/G, respectively. (B) GATA2 cDNA sequences from isolated granulocytes (Grans), CD3⁺ T-cells (CD3⁺), and CD3^– PBMCs (CD3^–) demonstrate reduced expression of c.1017+572C>T allele. (C) Quantitation of relative peak heights of patient 4.II.1 mutant allele as a percentage of the combined peak height at that site.