ABCB7 and myelodysplastic syndrome: While at present there is a lack of extensive direct evidence that the alterations in pre-mRNA splicing caused by mutations in splicing factors are the main mechanism driving the disease in MDS, aberrant splicing of some key downstream target genes (e.g., ATP-binding cassette subfamily B member 7 [ABCB7] and enhancer of zeste 2 polycomb repressive complex 2 subunit [EZH2]) linked to splicing factor gene (SF3B1 and SRSF2) mutations has been shown to be associated with certain MDS disease aspects and phenotypes (12, 13).