Mutations in the remaining FA genes, FANCI, BRIP1 (FANCJ), FANCL, FANCM, PALB2 (FANCN), RAD51C (FANCO), SLX4 (FANCP), ERCC4 (FANCQ), BRCA1 (FANCS), and the recently reported RAD51(FANCR) and UBE2T (FANCT), contribute to <5 % of FA cases, combined [5, 17]. Here, ERCC4 is linked to Friedreich ataxia.