Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.
TPM2
oligogenic inheritance
rare orthopedic disorders
spondylospinal thoracic dysostosis
whole exome sequencing
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2023
2023
Historique:
received:
27
01
2023
accepted:
23
08
2023
medline:
25
9
2023
pubmed:
25
9
2023
entrez:
25
9
2023
Statut:
epublish
Résumé
Spondylocostal dysostosis is a rare genetic disorder caused by mutations in We report here the case of an 18-month-old female patient presenting the clinical and radiological features of spondylospinal thoracic dysostosis. To determine the underlying genetic etiology, whole exome sequencing (WES) and Sanger sequencing were performed. Using WES, we identified a variant in the We showed a potential association between
Sections du résumé
Background
UNASSIGNED
Spondylocostal dysostosis is a rare genetic disorder caused by mutations in
Methods
UNASSIGNED
We report here the case of an 18-month-old female patient presenting the clinical and radiological features of spondylospinal thoracic dysostosis. To determine the underlying genetic etiology, whole exome sequencing (WES) and Sanger sequencing were performed.
Results
UNASSIGNED
Using WES, we identified a variant in the
Conclusion
UNASSIGNED
We showed a potential association between
Identifiants
pubmed: 37744435
doi: 10.3389/fped.2023.1132023
pmc: PMC10512740
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1132023Informations de copyright
© 2023 Bouchoucha, Chikhaoui, Najjar, Zayoud, Zouari, Nessib, Kéfi and Yacoub-Youssef.
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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