Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.
Sepide DashtiShadab SalehpourMohammad Reza GhasemiHossein SadeghiMasoumeh RostamiFeyzollah Hashemi-GorjiReza MirfakhraieVahid Reza YassaeeMohammad MiryounesiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)
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.
Keyphrases
- intellectual disability
- autism spectrum disorder
- cell adhesion
- gene expression
- copy number
- signaling pathway
- genome wide
- single cell
- cell proliferation
- epithelial mesenchymal transition
- genome wide identification
- dna methylation
- pi k akt
- cell migration
- photodynamic therapy
- biofilm formation
- zika virus
- papillary thyroid
- escherichia coli
- cell therapy
- staphylococcus aureus
- squamous cell carcinoma
- pseudomonas aeruginosa
- mesenchymal stem cells
- transcription factor
- amino acid
- protein protein
- genome wide analysis
- squamous cell
- induced apoptosis
- candida albicans