Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation

Abstract

Congenital dyserythropoietic anemia (CDA) is a rare and heterogeneous group of inherited anemias characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes. 1 CDA type III (OMIM 105600) is the rarest subtype of CDA. 1 A study in two independent families identified a causative dominant missense mutation in KIF23. 2 KIF23 encodes mitotic kinesin-like protein (MKLP1), which combines with a homodimer of the RACGAP1 protein to form centralspindlin, a key regulator of cytokinesis 2,3 Depletion of MKLP1 leads to the formation of large multinucleate erythroblasts due to cytokinesis failure. 2 Recently, mutations in RACGAP1 have been described in CDA type III families. 3,4 Most CDA type III cases present with mildto-moderate anemia, and transfusion is rarely needed. [3][4][5][6] Because of