Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.
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| Title: | Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability. |
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| Authors: | Dashti, Sepide (AUTHOR), Salehpour, Shadab (AUTHOR), Ghasemi, Mohammad-Reza (AUTHOR), Sadeghi, Hossein (AUTHOR), Rostami, Masoumeh (AUTHOR), Hashemi-Gorji, Farzad (AUTHOR), Mirfakhraie, Reza (AUTHOR), Yassaee, Vahid Reza (AUTHOR), Miryounesi, Mohammad (AUTHOR) |
| Source: | Neurological Sciences. Apr2022, Vol. 43 Issue 4, p2859-2863. 5p. 1 Chart, 1 Graph. |
| Subjects: | Genetic mutation, Craniofacial abnormalities, Cytoskeletal proteins, Intellectual disabilities, Disease complications |
| Geographic Terms: | Iran |
| Abstract: | 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. [ABSTRACT FROM AUTHOR] |
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| Database: | Psychology and Behavioral Sciences Collection |
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