Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
revised:
05
03
2021
received:
06
11
2020
accepted:
08
03
2021
pubmed:
12
3
2021
medline:
3
8
2021
entrez:
11
3
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33704825
doi: 10.1002/ana.26063
pmc: PMC8494076
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1240-1247Subventions
Organisme : Wellcome Trust
ID : Wellcome Trust Synaptopathies Award
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/J004758/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S002065/1
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S005021/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0802760
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1001253
Pays : United Kingdom
Investigateurs
Issam Alkhawaja
(I)
Selina Banu
(S)
Maria Bonsignore
(M)
Marianthi Breza
(M)
Gabriella Di Rosa
(G)
Morteza Heidari
(M)
Georgios Koutsis
(G)
Arn M J M van den Maagdenberg
(AMJM)
Alfons Macaya
(A)
Alexander Münchau
(A)
Carmela Scuderi
(C)
Nazira Zharkinbekova
(N)
Informations de copyright
© 2021 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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