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Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

2019-03-01Journal article Restricted access
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dc.contributor.authorNogueira, Célia
dc.contributor.authorSilva, Lisbeth
dc.contributor.authorPereira, Cristina
dc.contributor.authorVieira, Luís
dc.contributor.authorLeão Teles, Elisa
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorCampos, Teresa
dc.contributor.authorJaneiro, Patrícia
dc.contributor.authorGaspar, Ana
dc.contributor.authorDupont, Juliette
dc.contributor.authorBandeira, Anabela
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorMagalhães, Marina
dc.contributor.authorSequeira, Sílvia
dc.contributor.authorVieira, José Pedro
dc.contributor.authorSantos, Helena
dc.contributor.authorVilarinho, Sílvia
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2020-04-30T17:30:01Z
dc.date.available2020-04-30T17:30:01Z
dc.date.issued2019-03-01
dc.description.abstractMitochondrial diseases (MD) are a group of rare inherited disorders, characterized by phenotypic heterogeneity, with hitherto no effective therapeutic options. The aim of this study was to develop a next generation sequencing (NGS) strategy, by using a custom gene panel and whole mitochondrial genome, to identify the disease causing pathogenic variants in 146 patients suspicious of MD. The molecular analysis of this cohort revealed six novel and 15 described pathogenic variants, as well as 26 variants of unknown significance. Our findings are expanding the mutational landscape of these disorders and support the use of a NGS strategy for a higher diagnostic yield.pt_PT
dc.description.sponsorshipThis work was supported by FCT (PTDC/DTP-PIC/2220/2014) and NORTE2020 (NORTE-01-0246-FEDER-000014). Silvia Vilarinho is supported by the National Institute Of Diabetes And Digestive And Kidney Diseases of the National Institutes of Health under Award Number K08DK113109. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMitochondrion. 2019 Jul;47:309-317. doi: 10.1016/j.mito.2019.02.006. Epub 2019 Mar 1pt_PT
dc.identifier.doi10.1016/j.mito.2019.02.006pt_PT
dc.identifier.issn1567-7249
dc.identifier.urihttp://hdl.handle.net/10400.18/6560
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier/ Mitochondria Research Societypt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/abs/pii/S1567724918302502?via%3Dihubpt_PT
dc.subjectMitochondrial Diseasespt_PT
dc.subjectGene Panelpt_PT
dc.subjectmtDNApt_PT
dc.subjectNuclear Genespt_PT
dc.subjectNext Generation Sequencingpt_PT
dc.subjectRespiratory Chainpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleTargeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunctionpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage317pt_PT
oaire.citation.startPage309pt_PT
oaire.citation.titleMitochondrionpt_PT
oaire.citation.volume47pt_PT
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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