After excluding exon 15 deletion in FANCA gene, WES data analysis allowed identification of a nonsense mutation c.[2392C>T];[2392C>T]: p.[Arg798*];[Arg798*] at homozygous state in exon 17 of BRIP1/FANCJ gene which is responsible for FA. The gene discussed is FANCA; the disease is Friedreich ataxia.