130580 20240126184245.0 doi 10.3390/genes11091007 sideral 119542 ART-2020-119542 eng Habbane, M. Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA 2020 BACKGROUND: 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. Access copy available to the general public Unrestricted info:eu-repo/grantAgreement/ES/DGA/B33-17R info:eu-repo/grantAgreement/ES/DGA-FEDER/Construyendo Europa desde Aragón info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166 info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI17-00109 info:eu-repo/semantics/openAccess by http://creativecommons.org/licenses/by/3.0/es/ 4.096 2020 GENETICS & HEREDITY 65 / 175 = 0.371 2020 Q2 T2 1.337 2020 Genetics (clinical) 2020 Q2 Genetics 2020 Q2 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Llobet, L. Universidad de Zaragoza (orcid)0000-0002-4379-1100 Bayona-Bafaluy, M.P. Universidad de Zaragoza (orcid)0000-0002-8585-6371 Bárcena, J.E. Ceberio, L. Gómez-Díaz, C. Gort, L. Artuch, R. Montoya, J. Universidad de Zaragoza (orcid)0000-0003-1770-6299 Ruiz-Pesini, E. Universidad de Zaragoza (orcid)0000-0002-0269-7337 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 1002 050 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Biología Celular 11, 9 (2020), 11091007 [9 pp] Genes (Basel) Genes 2073-4425 1993589 http://zaguan.unizar.es/record/130580/files/texto_completo.pdf Versión publicada 2077675 http://zaguan.unizar.es/record/130580/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:130580 articulos driver 2024-01-26-18:11:29 ARTICLE