Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
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ABSTRACT:
SUBMITTER: Poole OV
PROVIDER: S-EPMC8494076 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Publications
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole Olivia V OV Pizzamiglio Chiara C Murphy David D Falabella Micol M Macken William L WL Bugiardini Enrico E Woodward Cathy E CE Labrum Robyn R Efthymiou Stephanie S Salpietro Vincenzo V Chelban Viorica V Kaiyrzhanov Rauan R Maroofian Reza R Amato Anthony A AA Gregory Allison A Hayflick Susan J SJ Jonvik Hallgeir H Wood Nicholas N Houlden Henry H Vandrovcova Jana J Hanna Michael G MG Pittman Alan A Pitceathly Robert D S RDS
Annals of neurology 20210401 6
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-fou ...[more]
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