Of the 167 LS patients, 77 (46.1%) carried a pathogenic variant in MLH1, 63 (37.7%) in MSH2, 18 in MSH6 (10.8%), 4 in PMS2 (2.4%), and 5 patients (3.0%) carried a pathogenic deletion of the EPCAM gene. The gene discussed is MSH6; the disease is Leigh syndrome.