Traditionally, familial MDS are considered rare, especially in adulthood; however, the growing accessibility of genetic testing incorporated into clinical practice has enabled identification of a large number of mutations associated with a predisposition to MDS, including those in RUNX1, ANKRD26, DDX41, ETV6, GATA2 and SRP72 [53,54]. This evidence concerns the gene DDX41 and myelodysplastic syndrome.