Journal
ANNALS OF NEUROLOGY
Volume 89, Issue 6, Pages 1240-1247Publisher
WILEY
DOI: 10.1002/ana.26063
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Funding
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme
- UK NHS Highly Specialized Commissioners
- Medical Research Council (UK) Clinician Scientist Fellowship [MR/S002065/1]
- Medical Research Council (UK) [MR/S005021/1]
- Health Education England Genomics Education Programme
- Association of British Neurologists/Multiple System Atrophy Trust Clinical Research Training Fellowship
- Wellcome Trust Synaptopathies Award
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The expanding catalog of neurogenetic disorders has led to a shift towards early clinical whole exome sequencing (WES). By reanalyzing exomes enriched with neurological diseases, pathogenic mtDNA variants were identified which resulted in diagnostic improvements in neurological diseases.
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
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