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Publication Detail
Mitochondrial DNA analysis from exome sequencing data improves the diagnostic yield in neurological diseases.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R, SYNaPS Study Group , Amato AA, Gregory A, Hayflick SJ, Genomics QS, Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS
  • Publication date:
    01/04/2021
  • Journal:
    Ann Neurol
  • Status:
    Published
  • Country:
    United States
  • Language:
    eng
Abstract
A rapidly expanding catalogue 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. This article is protected by copyright. All rights reserved.
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Department of Neuromuscular Diseases
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Clinical and Movement Neurosciences
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