First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy.
SGCB
aberrant splicing
diagnosis
intron
splice-altering variants
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2022
2022
Historique:
received:
20
03
2022
accepted:
30
05
2022
entrez:
11
7
2022
pubmed:
12
7
2022
medline:
12
7
2022
Statut:
epublish
Résumé
The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in Muscle-derived reverse transcription-polymerase chain reaction analysis and/or TA cloning of In patients F1-II1 and F1-II2, we identified two novel pathogenic compound heterozygous variants in This is the first identification of rare exonic and DISVs in the
Sections du résumé
Background
UNASSIGNED
The precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in
Methods
UNASSIGNED
Muscle-derived reverse transcription-polymerase chain reaction analysis and/or TA cloning of
Results
UNASSIGNED
In patients F1-II1 and F1-II2, we identified two novel pathogenic compound heterozygous variants in
Conclusion
UNASSIGNED
This is the first identification of rare exonic and DISVs in the
Identifiants
pubmed: 35813381
doi: 10.3389/fped.2022.900280
pmc: PMC9257024
doi:
Types de publication
Journal Article
Langues
eng
Pagination
900280Informations de copyright
Copyright © 2022 Xie, Sun, Liu, Chu, Gang, Yu, Zheng, Meng, Li, Xia, Wang, Li, Deng, Lv, Wang, Zhang and Yuan.
Déclaration de conflit d'intérêts
DX and LW were employed by Running Gene Inc., Beijing, China. They performed the experiments of muscle-derived RNA studies. The remaining 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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