Three of these patients had an alteration in a gene involved in DNA damage repair (2x BRCA2 and 1x FANCL mutation), and one patient who was diagnosed with Fanconi anemia (FA) before MTB inclusion had a CDK4/CCND1 co-amplification, whereas the majority (seven patients) displayed activating alterations of protein kinases (Figure 4A). The gene discussed is CDK4; the disease is Friedreich ataxia.