Evidently, in vitro SPRTN-∆C is catalytically active and at least one Ruijs-Aalfs syndrome patient with homozygous sprtn-∆C alleles lived through his adolescent years until eventually succumbing to hepatocellular carcinoma in early adulthood (Ruijs et al., 2003). The gene discussed is SPRTN; the disease is hepatocellular carcinoma.