We also focused on 21 known genes implicated in CH (Supplementary Table 3) and only found a novel homozygous missense variant (c.2315A>G; p.Tyr772Cys) in the TPO (NM_175719.3; rs1382787497) gene in both affected individuals (IV: 2 and IV: 5), which was confirmed by Sanger sequencing (Fig. 1B). The gene discussed is TPO; the disease is cyclic hematopoiesis.