In human disease with “ribosomopathy”, some germline variants of the FIR/PUF60 gene, generating truncated protein lacking RRM1, RRM2, P62-binding site, or RRM3/UHM, have been reported in Verheij and CHARGE syndromes (Supplementary Figure S5b) (Table S5). The gene discussed is PUF60; the disease is CHARGE syndrome.