For the three patients with CH PRTG variants, one patient harbours a de novo missense variant in HSF2, the second has a nonsense variant in CELSR1, and the third patient has two de novo variants – a missense in Fam102A and a 3 ́UTR variant in USP42. De novo mutations were only reported in one of the probands with in trans TNC variants – a missense variant in DIP2C and a splice donor change in IFT172. All three patients with CH variants in MACF1 were reported to have de novo mutations. This evidence concerns the gene USP42 and cyclic hematopoiesis.