We also found mutations located in the coding and splice regions of all these genes [MLH1, MSH2, MSH6, PMS2, epithelial cell adhesion molecule (EPCAM), mutY homologue (MUTYH), Phosphatase and tensin homolog (PTEN)] that may be associated with the pathogenesis of LS depending on their mutation type. This evidence concerns the gene EPCAM and Leigh syndrome.