The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.
NSD1
Pineoblastoma
Sotos syndrome
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
08 Mar 2024
08 Mar 2024
Historique:
received:
27
07
2023
accepted:
09
02
2024
medline:
9
3
2024
pubmed:
9
3
2024
entrez:
8
3
2024
Statut:
epublish
Résumé
Germline mutations of NSD1 are associated with Sotos syndrome, characterized by distinctive facial features, overgrowth, and developmental delay. Approximately 3% of individuals with Sotos syndrome develop tumors. In this study, we describe an infant in pineoblastoma with facial anomalies, learning disability and mild autism at 1 years diagnosed as Sotos syndrome owing to carrying a novel mutation de novo germline NSD1 likely pathogenic variant. This patient expands both the mutation and phenotype spectrum of the Sotos Syndrome and provides new clinical insights into the potential mechanism of underlying pinealoblastoma pathology.
Identifiants
pubmed: 38459438
doi: 10.1186/s12887-024-04636-y
pii: 10.1186/s12887-024-04636-y
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
166Informations de copyright
© 2024. The Author(s).
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