Poole, OV;
Pizzamiglio, C;
Murphy, D;
Falabella, M;
Macken, WL;
Bugiardini, E;
Woodward, CE;
Labrum, R;
Efthymiou, S;
Salpietro, V;
et al.
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; Queen Square Genomics; Jonvik, H; Wood, N; Houlden, H; Vandrovcova, J; Hanna, MG; Pittman, A; Pitceathly, RDS
(2021)
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol, 89 (6).
pp. 1240-1247.
ISSN 1531-8249
https://doi.org/10.1002/ana.26063
SGUL Authors: Maroofian, Reza Pittman, Alan Michael
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Abstract
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.
| Item Type: | Article | |||||||||||||||||||||||||||||||||
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| Additional Information: | © 2021 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. | |||||||||||||||||||||||||||||||||
| Keywords: | SYNaPS Study Group, Queen Square Genomics, 1103 Clinical Sciences, 1109 Neurosciences, Neurology & Neurosurgery | |||||||||||||||||||||||||||||||||
| SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | |||||||||||||||||||||||||||||||||
| Journal or Publication Title: | Ann Neurol | |||||||||||||||||||||||||||||||||
| ISSN: | 1531-8249 | |||||||||||||||||||||||||||||||||
| Language: | eng | |||||||||||||||||||||||||||||||||
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| Publisher License: | Creative Commons: Attribution 4.0 | |||||||||||||||||||||||||||||||||
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| PubMed ID: | 33704825 | |||||||||||||||||||||||||||||||||
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/113089 | |||||||||||||||||||||||||||||||||
| Publisher's version: | https://doi.org/10.1002/ana.26063 |
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