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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole, Olivia V; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L; Bugiardini, Enrico; Woodward, Cathy E; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A; Gregory, Allison; Hayflick, Susan J; Jonvik, Hallgeir; Wood, Nicholas; Houlden, Henry; Vandrovcova, Jana; Hanna, Michael G; Pittman, Alan; Pitceathly, Robert D S.
Afiliação
  • Poole OV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Woodward CE; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Labrum R; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Amato AA; Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
  • Gregory A; Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health and Science University, Portland, OR.
  • Hayflick SJ; Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health and Science University, Portland, OR.
  • Jonvik H; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Wood N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Pittman A; Genetics Research Centre, St. George's, University of London, London, UK.
  • Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Ann Neurol ; 89(6): 1240-1247, 2021 06.
Article em En | MEDLINE | ID: mdl-33704825
A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift towards early clinical whole exome sequencing (WES). Adult primary mitochondrial diseases (PMDs) frequently exhibit neurological manifestations that overlap with other nervous system disorders. However, mitochondrial DNA (mtDNA) is not routinely analyzed in standard clinical WES bioinformatic pipelines. We reanalyzed 11,424 exomes, enriched with neurological diseases, for pathogenic mtDNA variants. Twenty-four different mtDNA mutations were detected in 64 exomes, 11 of which were considered disease causing based on the associated clinical phenotypes. These findings highlight the diagnostic uplifts gained by analyzing mtDNA from WES data in neurological diseases. ANN NEUROL 2021;89:1240-1247.
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças Mitocondriais / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child, preschool / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças Mitocondriais / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child, preschool / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2021 Tipo de documento: Article