In 2013, a homozygous missense variant in VPS45 gene, which encodes a protein essential for membrane trafficking, was first reported as a cause of a novel syndromic form of SCN (SCN5), characterized by progressive bone marrow fibrosis, organomegaly, and osteosclerosis(Stepensky et al., 2013; Vilboux et al., 2013). Here, VPS45 is linked to primary myelofibrosis.