These mutations are involved in DDR-related pathways, including mismatch repair (MMR), nucleotide excision repair (NER), nonhomologous end joining (NHEJ), base excision repair (BER), homologous recombination repair (HRR), translesion synthesis (TLS), checkpoint factors (CPF) and Fanconi anemia (FA) (Fig. 3b). This evidence concerns the gene NR5A2 and Friedreich ataxia.