Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
Colombia
SON
ZTTK syndrome
Zhu–Tokita–Takenouchi–Kim syndrome
rare disease
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2023
2023
Historique:
received:
10
03
2023
accepted:
12
04
2023
medline:
21
7
2023
pubmed:
21
7
2023
entrez:
21
7
2023
Statut:
epublish
Résumé
Zhu-Tokita-Takenouchi-Kim syndrome is a multisystem disorder resulting from haploinsufficiency in the SON gene, which is characterized by developmental delay/intellectual disability, seizures, facial dysmorphism, short stature, and congenital malformations, primarily in the central nervous system, along with ophthalmic, dental, pulmonary, cardiologic, renal, gastrointestinal, and musculoskeletal anomalies. In this study, we describe the first Colombian patient with ZTT harboring a novel mutation that has not been previously reported and review the clinical and molecular features of previously reported patients in the literature.
Identifiants
pubmed: 37476413
doi: 10.3389/fgene.2023.1183362
pii: 1183362
pmc: PMC10354630
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1183362Informations de copyright
Copyright © 2023 Vasquez-Forero, Masotto, Ferrer-Avargues, Moya and Pachajoa.
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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