We found differential exon usage in at least one exon of genes involved in MDS pathophysiology (CBL, ASXL1 and DNMT3A), mitochondrial function (ALAS2, NDUFAF6), erythroid differentiation (NFE2L2, PPOX and HMBS) and mRNA processing (HNRNPD, U2AF2 and PRPF8). The gene discussed is NDUFAF6; the disease is myelodysplastic syndrome.