Fanconi anemia (FA) is an autosomal or X-linked recessive inherited DNA instability disorder that is caused by germline mutations in at least 17 genes (FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/ERCC4 and FANCS/BRCA1) that are involved in the DNA damage response (1–4). This evidence concerns the gene ERCC4 and Friedreich ataxia.