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] |
| Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 155720829 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Dashti%2C+Sepide%22">Dashti, Sepide</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Salehpour%2C+Shadab%22">Salehpour, Shadab</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ghasemi%2C+Mohammad-Reza%22">Ghasemi, Mohammad-Reza</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sadeghi%2C+Hossein%22">Sadeghi, Hossein</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rostami%2C+Masoumeh%22">Rostami, Masoumeh</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hashemi-Gorji%2C+Farzad%22">Hashemi-Gorji, Farzad</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mirfakhraie%2C+Reza%22">Mirfakhraie, Reza</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yassaee%2C+Vahid+Reza%22">Yassaee, Vahid Reza</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Miryounesi%2C+Mohammad%22">Miryounesi, Mohammad</searchLink> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Apr2022, Vol. 43 Issue 4, p2859-2863. 5p. 1 Chart, 1 Graph. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Craniofacial+abnormalities%22">Craniofacial abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Cytoskeletal+proteins%22">Cytoskeletal proteins</searchLink><br /><searchLink fieldCode="DE" term="%22Intellectual+disabilities%22">Intellectual disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+complications%22">Disease complications</searchLink> – Name: SubjectGeographic Label: Geographic Terms Group: Su Data: <searchLink fieldCode="DE" term="%22Iran%22">Iran</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: 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] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10072-022-05904-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 2859 Subjects: – SubjectFull: Genetic mutation Type: general – SubjectFull: Craniofacial abnormalities Type: general – SubjectFull: Cytoskeletal proteins Type: general – SubjectFull: Intellectual disabilities Type: general – SubjectFull: Disease complications Type: general – SubjectFull: Iran Type: general Titles: – TitleFull: Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Dashti, Sepide – PersonEntity: Name: NameFull: Salehpour, Shadab – PersonEntity: Name: NameFull: Ghasemi, Mohammad-Reza – PersonEntity: Name: NameFull: Sadeghi, Hossein – PersonEntity: Name: NameFull: Rostami, Masoumeh – PersonEntity: Name: NameFull: Hashemi-Gorji, Farzad – PersonEntity: Name: NameFull: Mirfakhraie, Reza – PersonEntity: Name: NameFull: Yassaee, Vahid Reza – PersonEntity: Name: NameFull: Miryounesi, Mohammad IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: Apr2022 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 43 – Type: issue Value: 4 Titles: – TitleFull: Neurological Sciences Type: main |
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