Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
inherited optic neuropathies
mitochondrial disorders
molecular diagnosis
next generation sequencing
retinal ganglia cells
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
04
09
2020
accepted:
01
02
2021
entrez:
12
4
2021
pubmed:
13
4
2021
medline:
13
4
2021
Statut:
epublish
Résumé
Advances in next-generation sequencing (NGS) facilitate the diagnosis of genetic disorders. To evaluate its use for the molecular diagnosis of inherited optic neuropathy (ION), a blinding disease caused by the degeneration of retinal ganglion cells, we performed genetic analysis using targeted NGS of 22 already known and candidate genes in a cohort of 1,102 affected individuals. The panel design, library preparation, and sequencing reactions were performed using the Ion AmpliSeq technology. Pathogenic variants were detected in 16 genes in 245 patients (22%), including 186 (17%) and 59 (5%) dominant and recessive cases, respectively. Results confirmed that
Identifiants
pubmed: 33841295
doi: 10.3389/fneur.2021.602979
pmc: PMC8027346
doi:
Types de publication
Journal Article
Langues
eng
Pagination
602979Informations de copyright
Copyright © 2021 Charif, Bris, Goudenège, Desquiret-Dumas, Colin, Ziegler, Procaccio, Reynier, Bonneau, Lenaers and Amati-Bonneau.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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