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dc.contributor.authorMartín, Miguel Ángel
dc.contributor.authorGarcía Silva, María Teresa
dc.contributor.authorBarcia, Giulia
dc.contributor.authorDelmiro, Aitor
dc.contributor.authorRodríguez García, María Elena
dc.contributor.authorBlázquez, Alberto
dc.contributor.authorFrancisco-Álvarez, R.
dc.contributor.authorMartín Hernández, Elena
dc.contributor.authorQuijada Fraile, Pilar
dc.contributor.authorTejada Palacios, Pilar
dc.contributor.authorArenas, Joaquín
dc.contributor.authorSantos Tejedor, Cruz 
dc.contributor.authorMartínez Azorín, Francisco
dc.date.accessioned2019-11-18T12:47:15Z
dc.date.available2019-11-18T12:47:15Z
dc.date.issued2016
dc.identifier.issn0009-9163spa
dc.identifier.urihttp://hdl.handle.net10641/1745
dc.description.abstractWe report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants, and molecular, in silico and genetic studies were performed to characterize the candidate variants. Mitochondrial DNA (mtDNA) defects involving mutations, deletions or depletion were discarded, whereas WES uncovered a double homozygous mutation in the MTO1 gene (NM_001123226:c.1510C>T, p.R504C, and c.1669G>A, p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. Therefore, our data confirm p.R504C as pathogenic mutation responsible of ONCE syndrome, and p.V557M as a rare polymorphic variant.spa
dc.language.isoengspa
dc.publisherClinical Geneticsspa
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.subjectEncephalopathyspa
dc.subjectHypertrophic cardiomyopathyspa
dc.subjectMitochondriaspa
dc.subjectOptic atrophyspa
dc.titleThe homozygous R504C mutation in MTO1 gene is responsible for ONCE syndromespa
dc.typearticlespa
dc.description.versionpost-printspa
dc.rights.accessRightsopenAccessspa
dc.description.extent712 KBspa
dc.identifier.doi10.1111/cge.12815spa
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/abs/10.1111/cge.12815spa


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