Analysis of MECOM in TRS4 and her family. (A) Graphical representation of the EVI1 protein and its major functional domains. EVI1 harbors 7 ZF motifs in the N-terminal ZF domain and 3 ZF motifs in the C-terminal ZF domain. Arrows indicate the exon boundaries affected by the variants in this study. (B) Pedigree of family 1. Black on the left represents pancytopenia, gray on the left represents mild leukocytopenia and thrombocytopenia, black on the upper right represents radioulnar synostosis, and black on the lower right represents clubfoot. P indicates the proband (TRS4). (C) Mutation analysis of TRS4 and her family. The genomic DNA sources are listed on the left. (D) The results of SNP array using the DNA from leukocytes in the peripheral blood of the mother of TRS4. The weighted log 2 ratio revealed neutral copy number, and the B allele frequency showed the loss of heterozygosity from 3q13.31 to 3q29. (E) The results of Sanger sequencing and SNP array obtained using the DNA from the bone marrow of TRS4 at 7 months of age. The mutant A peak was smaller than the G (wild-type) peak in the electropherogram. SNP array showed copy-neutral loss of heterozygosity from 3q21 to 3q29. NA, not available; SNP, single nucleotide polymorphism; VAF, variant allele frequency determined by WES.