EPCAM and Leigh syndrome: Forty-five patients (1.1%) were identified as having LS with pathogenic germline mutations in MSH2 and/or EPCAM. Of these, 12 (26.7%) were confirmed to carry LGRs in MSH2/EPCAM by MLPA, including six probands with MSH2 genomic deletions, four with MSH2-EPCAM deletions (two cases from a family pedigree), and two with EPCAM deletions.