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

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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.

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Fig. 1

Data availability

The data related to this work is available at the corresponding author.

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Acknowledgements

The authors acknowledge the family who participated in this study.

Accession number

The variant obtained ClinVar accession number SCV001251793.1.

Author information

Authors and Affiliations

  1. Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran

    Sepide Dashti

  2. Department of Pediatrics, Clinical Research Development Unit, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Shadab Salehpour

  3. Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Mohammad-Reza Ghasemi, Reza Mirfakhraie, Vahid Reza Yassaee & Mohammad Miryounesi

  4. Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Mohammad-Reza Ghasemi, Masoumeh Rostami & Mohammad Miryounesi

  5. Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie & Vahid Reza Yassaee

Authors
  1. Sepide Dashti
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  2. Shadab Salehpour
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  3. Mohammad-Reza Ghasemi
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  4. Hossein Sadeghi
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  9. Mohammad Miryounesi
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Contributions

Recruitment and clinical confirmation were completed and performed by SS, M-RG, and MM. MR, M-RG, FH-G, and MM performed molecular experiments like DNA extraction and analyzed WES results. Bioinformatic analyses were done by SD and FH-G. SD wrote the manuscript. M-RG, FH-G, HS, RM, VRY, and MM contributed to the revisions of the manuscript. The final revision has been confirmed and essential ideas into the revision of the manuscript have been provided by all authors.

Corresponding author

Correspondence to Mohammad Miryounesi.

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Ethical approval and consent to participate

This study was approved by the Research Ethics Committee of the Faculty of Medicine, Shahid Beheshti University of Medical Sciences, and was conducted in accordance with the tenets of the Declaration of Helsinki. Informed consent was obtained from parents.

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All the contributing authors agreed for the publication in this journal.

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The authors declare no competing interests.

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Dashti, S., Salehpour, S., Ghasemi, MR. et al. Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability. Neurol Sci 43, 2859–2863 (2022). https://doi.org/10.1007/s10072-022-05904-4

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  • DOI: https://doi.org/10.1007/s10072-022-05904-4

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