Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.
CTNNB1 gene
Hypotonia
Intellectual disability
Motor delay
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
received:
19
04
2021
accepted:
14
01
2022
pubmed:
1
2
2022
medline:
16
3
2022
entrez:
31
1
2022
Statut:
ppublish
Résumé
CTNNB1 encodes for the β-catenin protein, a component of the cadherin adhesion complex, which regulates cell-cell adhesion and gene expression in the canonical Wnt signaling pathway. Mutations in CTNNB1 have been reported to be associated with cancer and mental disorders. Recently, loss-of-function mutations in CTNNB1 have been observed in patients with intellectual disability and some other clinical manifestations including motor and language delays, microcephaly, and mild visual defects. We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene.
Identifiants
pubmed: 35099645
doi: 10.1007/s10072-022-05904-4
pii: 10.1007/s10072-022-05904-4
doi:
Substances chimiques
CTNNB1 protein, human
0
Codon, Nonsense
0
beta Catenin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2859-2863Informations de copyright
© 2022. Fondazione Società Italiana di Neurologia.
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