Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
exome sequencing
genetic diseases, inborn
genetics, medical
loss of function mutation
mental disorders
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
27 Jun 2024
27 Jun 2024
Historique:
received:
02
04
2024
accepted:
18
06
2024
medline:
28
6
2024
pubmed:
28
6
2024
entrez:
27
6
2024
Statut:
aheadofprint
Résumé
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( We collected genetic and medical information from 24 individuals with TBRS using a questionnaire released through the French National AnDDI-Rares Network. Here, we describe the first nationwide French cohort of 24 individuals with germline likely pathogenic/pathogenic variants in This study of a nationwide cohort of individuals with TBRS confirms previously published data and provides additional information and clarifies clinical features to facilitate diagnosis and improve care. This study adds value to the growing body of knowledge on TBRS and broadens its clinical and molecular spectrum.
Sections du résumé
BACKGROUND
BACKGROUND
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha (
METHODS
METHODS
We collected genetic and medical information from 24 individuals with TBRS using a questionnaire released through the French National AnDDI-Rares Network.
RESULTS
RESULTS
Here, we describe the first nationwide French cohort of 24 individuals with germline likely pathogenic/pathogenic variants in
CONCLUSION
CONCLUSIONS
This study of a nationwide cohort of individuals with TBRS confirms previously published data and provides additional information and clarifies clinical features to facilitate diagnosis and improve care. This study adds value to the growing body of knowledge on TBRS and broadens its clinical and molecular spectrum.
Identifiants
pubmed: 38937076
pii: jmg-2024-110031
doi: 10.1136/jmg-2024-110031
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.