Detection of
ATXN2 gene
CAA interruption
Parkinson's disease
repeat expansions
whole exome sequencing
Journal
Movement disorders clinical practice
ISSN: 2330-1619
Titre abrégé: Mov Disord Clin Pract
Pays: United States
ID NLM: 101630279
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
13
12
2022
revised:
23
01
2023
accepted:
05
02
2023
medline:
19
4
2023
entrez:
18
4
2023
pubmed:
19
4
2023
Statut:
epublish
Résumé
CAG-repeat expansions in To identify We explored WES data from a cohort of 477 index cases with PD using ExpansionHunter (Illumina DRAGEN Bio-IT Platform, San Diego, CA). Putative expansions were confirmed by combining polymerase chain reaction and fragment length analysis followed by sub-cloning and sequencing methods. Using ExpansionHunter, we identified three patients from two families with AD PD carrying either These findings demonstrate the usefulness of WES to detect pathogenic CAG repeat expansions, which were found in 1.7% of AD PD in the
Sections du résumé
Background
UNASSIGNED
CAG-repeat expansions in
Objectives
UNASSIGNED
To identify
Methods
UNASSIGNED
We explored WES data from a cohort of 477 index cases with PD using ExpansionHunter (Illumina DRAGEN Bio-IT Platform, San Diego, CA). Putative expansions were confirmed by combining polymerase chain reaction and fragment length analysis followed by sub-cloning and sequencing methods.
Results
UNASSIGNED
Using ExpansionHunter, we identified three patients from two families with AD PD carrying either
Conclusion
UNASSIGNED
These findings demonstrate the usefulness of WES to detect pathogenic CAG repeat expansions, which were found in 1.7% of AD PD in the
Identifiants
pubmed: 37070044
doi: 10.1002/mdc3.13699
pii: MDC313699
pmc: PMC10105108
doi:
Types de publication
Journal Article
Langues
eng
Pagination
664-669Informations de copyright
© 2023 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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