Mutation analysis of RUNX1 and CBL genes in the pedigree. (A) Direct sequencing analysis of affected patients (III-1, III-2) and an unaffected family member (II-5) is shown. Arrow indicates a one-base deletion of adenine. (B) Mutated CBL is shown in the proband. (C) Identification of acquired uniparental disomy of 11q in the proband. Total copy number (tCN; red plot) is shown above the cytoband, and the results of allele-specific copy number analysis with anonymous references (AsCNAR) plots are shown below the cytoband. Larger allele is presented by a red line, and the smaller allele is presented by a blue line. Allele-specific analysis showed 11q-aUPD (blue line), which contained the CBL region (arrow). (D) Schematic representation of wild-type and mutated RUNX1. The affected RUNX1 is truncated at the C terminus of the transactivation domain (TAD). Part of TAD is lacking in this proband (red line).