doi:10.3390/genes11091007engHabbane, M.Llobet, L.Bayona-Bafaluy, M.P.Bárcena, J.E.Ceberio, L.Gómez-Díaz, C.Gort, L.Artuch, R.Montoya, J.Ruiz-Pesini, E.Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNAART-2020-119542BACKGROUND: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. METHODS: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients'' tissues and cybrid cell lines were performed. RESULTS: mitochondrial DNA (mtDNA) m.1555A>G/MT-RNR1 and m.9541T>C/MT-CO3 mutations were found. The first one is a well-known pathologic mutation. However, the second one does not appear to contribute to the high hearing loss penetrance and LS phenotype observed in this family. CONCLUSION: The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.2020http://zaguan.unizar.es/record/13058010.3390/genes11091007http://zaguan.unizar.es/record/130580oai:zaguan.unizar.es:130580info:eu-repo/grantAgreement/ES/DGA/B33-17Rinfo:eu-repo/grantAgreement/ES/DGA-FEDER/Construyendo Europa desde Aragóninfo:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI17-00109Genes 11, 9 (2020), 11091007 [9 pp]byhttp://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccess