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ajmg_35386_sm_SupplFig3.tif1587KFig. 3: Confirmation of the apparently de novo deletion spanning exons 3 to 7 using qPCR on genomic DNA from patient (blue bar), her father (green bar), her mother (dark red bar) and a control (bright red bar). GM-E2RUNX (exon 2), GM-E3RUNX (exon 3) and GME7RUNX (exon 7).
ajmg_35386_sm_SupplFig4.tif5858KFig. 4: A. RUNX1T1-coding DNA reference sequence of exons 2 and 8 along with the fusion exon2-exon8 transcript sequence. B. Partial cDNA sequence (obtained with reverse exon2-exon8 primers). The junction point is determined by the last G nucleotide of exon 2 corresponding to the last G nucleotide on sequencing result and marked with the yellow color.

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