Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy

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Combined methylmalonic acidemia (MMA) and hyperhomocysteinemias are inborn errors of vitamin B12 metabolism, INOSITOL and mutations in the transcriptional regulators HCFC1 and RONIN (THAP11) underlie some forms of these disorders.Here the authors generated mouse models of Extension Cable a human syndrome due to mutations in RONIN (THAP11) and HCFC1, and show that this syndrome is both an inborn error of vitamin B12 metabolism and displays some features of ribosomopathy.