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Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene

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Abstract

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant genetic disorder caused by genetic alterations in the CTNNB1 gene. CTNNB1 is a gene that encodes β-catenin, an effector protein in the canonical Wnt pathway involved in stem cell differentiation and proliferation, synaptogenesis, and a wide range of essential cellular mechanisms. Mutations in this gene are also found in specific malignancies as well as exudative vitreoretinopathy. To date, only a limited number of cases of this disease have been reported, and though they share some phenotypic manifestations such as intellectual disability, developmental delay, microcephaly, behavioral abnormalities, and dystonia, the variety of phenotypic traits of these patients shows extreme heterogeneity. In this study, two cases of NEDSDV with de novo CTNNB1 mutations: c.1420C>T(p.R474X) and c.1377_1378Del(p.Ala460Serfs*29), found with whole exome sequencing (WES) have been reported and the clinical and paraclinical characteristics of these patients have been described. Due to such a wide range of clinical characteristics, the identification of new patients and novel variants is of great importance in order to establish a more complete phenotypic spectrum, as well as to conclude the genotype-phenotype correlations in these cases.

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The data related to this work is available from the corresponding authors.

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Acknowledgements

The authors acknowledge the family who participated in this study.

Author information

Authors and Affiliations

  1. School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran

    Aysan Moeinafshar & Sahand Tehrani Fateh

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

    Hossein Sadeghi & Farzad Hashemi-Gorji

  3. Pediatric Neurology Department, Mofid children’s Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Parvaneh Karimzadeh

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

    Reza Mirfakhraie, Mohammad Miryounesi & Mohammad-Reza Ghasemi

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

    Pegah Larki, Mohammad Miryounesi & Mohammad-Reza Ghasemi

Authors
  1. Aysan Moeinafshar
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  2. Sahand Tehrani Fateh
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Contributions

AM, STF, M-RG, PK, PL, and MM completed recruitment and performed clinical confirmation. M-RG, FH-G, and MM performed molecular experiments like DNA extraction and analyzed WES results. Bioinformatic analyses were done by AM, M-RG, and FH-G. AM and STF wrote the manuscript. M-RG, FH-G, HS, RM, and MM contributed to the revisions of the manuscript. The final revision has been confirmed and essential ideas for the revision of the manuscript have been provided by all authors.

Corresponding authors

Correspondence to Mohammad Miryounesi or Mohammad-Reza Ghasemi.

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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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Moeinafshar, A., Tehrani Fateh, S., Sadeghi, H. et al. Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene. Neurol Sci 44, 4041–4048 (2023). https://doi.org/10.1007/s10072-023-06922-6

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  • DOI: https://doi.org/10.1007/s10072-023-06922-6

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