Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
03
02
2023
accepted:
05
06
2023
medline:
10
8
2023
pubmed:
10
8
2023
entrez:
10
8
2023
Statut:
epublish
Résumé
Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing is largely unexplored. We applied short-read and full-length transcript sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis. We identified an intronic homozygous This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.
Identifiants
pubmed: 37560121
doi: 10.1212/NXG.0000000000200090
pii: NXG-2023-000030
pmc: PMC10409571
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e200090Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM118509
Pays : United States
Commentaires et corrections
Type : UpdateOf
Informations de copyright
Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
Déclaration de conflit d'intérêts
The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.
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