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Article

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2022

Dashti Sepide, Salehpour Shadab, Ghasemi Mohammad-Reza, Sadeghi Hossein, Rostami Masoumeh, Hashemi-Gorji Farzad, Mirfakhraie Reza, Yassaee Vahid Reza, Miryounesi Mohammad

Abstract excerpt

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...

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PMID: 35099645
DOI: 10.1007/s10072-022-05904-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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