In this study, we conducted the WES with the mean coverage of 227×, and 15 recurrent genes with somatic mutations were found in addition to MED12. Among these genes, KMT2D has been reported in a FA case with a frameshift mutation (p.Gln4347fs).39 Tan et al reported that loss‐of‐function mutations in KMT2D has been observed in PTs, but were rarely present in FAs.19 In this study, we identified 2 frameshift mutations (p.Lys1840fs and p.Val3527fs) which have not been reported previously in 2 FA cases (P3 and P9). This evidence concerns the gene KMT2D and Friedreich ataxia.