Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
child development disorders
early diagnosis
medical genetics
mitochondria
whole exome sequencing
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
revised:
17
08
2021
received:
14
06
2021
accepted:
02
09
2021
pubmed:
8
9
2021
medline:
19
2
2022
entrez:
7
9
2021
Statut:
ppublish
Résumé
Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms, a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
766-770Subventions
Organisme : E-Rare
ID : 01GM1207
Organisme : German Bundesministerium für Bildung und Forschung (mitoNET)
ID : 01GM1113C
Informations de copyright
© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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