Identification of novel CSNK2A1 variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome: a case report and systematic literature review Article Swipe
Ruohao Wu
,
Wenting Tang
,
Kun‐yin Qiu
,
Xiaojuan Li
,
Danxia Tang
,
Zhe Meng
,
Zhanwen He
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1177/03000605211017063
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1177/03000605211017063
De novo germline variants of the casein kinase 2α subunit (CK2α) gene ( CSNK2A1) have been reported in individuals with the congenital neuropsychiatric disorder Okur–Chung neurodevelopmental syndrome (OCNS). Here, we report on two unrelated children with OCNS and review the literature to explore the genotype–phenotype relationship in OCNS. Both children showed facial dysmorphism, growth retardation, and neuropsychiatric disorders. Using whole-exome sequencing, we identified two novel de novo CSNK2A1 variants: c.479A>G p.(H160R) and c.238C>T p.(R80C). A search of the literature identified 12 studies that provided information on 35 CSNK2A1 variants in various protein-coding regions of CK2α. By quantitatively analyzing data related to these CSNK2A1 variants and their corresponding phenotypes, we showed for the first time that mutations in protein-coding CK2α regions appear to influence the phenotypic spectrum of OCNS. Mutations altering the ATP/GTP-binding loop were more likely to cause the widest range of phenotypes. Therefore, any assessment of clinical spectra for this disorder should be extremely thorough. This study not only expands the mutational spectrum of OCNS, but also provides a comprehensive overview to improve our understanding of the genotype–phenotype relationship in OCNS.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1177/03000605211017063
- OA Status
- gold
- Cited By
- 25
- References
- 18
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3164343575
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3164343575Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1177/03000605211017063Digital Object Identifier
- Title
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Identification of novel CSNK2A1 variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome: a case report and systematic literature reviewWork title
- Type
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reviewOpenAlex work type
- Language
-
enPrimary language
- Publication year
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2021Year of publication
- Publication date
-
2021-05-01Full publication date if available
- Authors
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Ruohao Wu, Wenting Tang, Kun‐yin Qiu, Xiaojuan Li, Danxia Tang, Zhe Meng, Zhanwen HeList of authors in order
- Landing page
-
https://doi.org/10.1177/03000605211017063Publisher landing page
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1177/03000605211017063Direct OA link when available
- Concepts
-
Phenotype, Genetics, Genotype-phenotype distinction, Genotype, Gene, Medicine, Exome sequencing, Biology, BioinformaticsTop concepts (fields/topics) attached by OpenAlex
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25Total citation count in OpenAlex
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2025: 5, 2024: 10, 2023: 3, 2022: 6, 2021: 1Per-year citation counts (last 5 years)
- References (count)
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18Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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