Overall, the screening test allowed the identification of at least one mutation in 50.2% (128/255) of the FA patients, 89 being in FANCA, 11 in FANCC, and 28 in FANCG. Homozygous mutations were found in 71 (55.5%) patients (43 in FANCA, 7 in FANCC, 21 in FANCG) and compound heterozygous in 57 (44.5%) patients (46 in FANCA, 4 in FANCC, 7 in FANCG). The gene discussed is FANCC; the disease is Friedreich ataxia.