Identification of a novel
RPGR gene
X-linked inheritance
mutation
primary ciliary dyskinesia
retinitis pigmentosa
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2024
2024
Historique:
received:
16
11
2023
accepted:
10
01
2024
medline:
9
2
2024
pubmed:
9
2
2024
entrez:
9
2
2024
Statut:
epublish
Résumé
The mutations in the Two young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, nasal nitric oxide analysis, transmission electron microscopy, high-speed video microscopy analysis, and genetic testing. We identified a novel frameshift The identified novel pathogenic mutation in the
Sections du résumé
Background
UNASSIGNED
The mutations in the
Methods
UNASSIGNED
Two young brothers from a non-consanguineous Slovak family with diagnosed retinal dystrophy and recurrent respiratory infections were examined. Suspected PCD was diagnosed based on a PICADAR questionnaire, nasal nitric oxide analysis, transmission electron microscopy, high-speed video microscopy analysis, and genetic testing.
Results
UNASSIGNED
We identified a novel frameshift
Conclusion
UNASSIGNED
The identified novel pathogenic mutation in the
Identifiants
pubmed: 38333087
doi: 10.3389/fped.2024.1339664
pmc: PMC10850321
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1339664Informations de copyright
© 2024 Kolkova, Durdik, Holubekova, Durdikova, Jesenak and Banovcin.
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.