ArticleHuman genetics2021
Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.Molecular genetics & genomic medicine · 2024Pooled it
- Functional characterization of 42 CK2α de novo variants associated with Okur-Chung neurodevelopmental syndrome.The FEBS journal · 2026Article
- Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort.Journal of human genetics · 2026Article
- Missense mutation in the activation segment of the kinase CK2 models Okur-Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse.Molecular psychiatry · 2025Article
- Rapid method for evaluation of CK2 enzymatic activity and CK2α/CK2β-interaction inBiological chemistry · 2025Article
- OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.Frontiers in human neuroscience · 2025Article
- Identification and functional analysis of a novelFrontiers in genetics · 2025Article
- Subtelomeric microdeletion in chromosome 20p13 associated with short stature.Clinical case reports · 2024Article
- Diacerein reduces inflammasome activation and SARS-CoV-2 virus replication: a proof-of-concept translational study.Frontiers in pharmacology · 2024Article
- Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.BMC medical genomics · 2022Article
- Structural and Enzymological Evidence for an Altered Substrate Specificity in Okur-Chung Neurodevelopmental Syndrome Mutant CK2αFrontiers in molecular biosciences · 2022Article
- Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?Frontiers in molecular biosciences · 2022Review
- Mechanism of CK2 Inhibition by a Ruthenium-Based Polyoxometalate.Frontiers in molecular biosciences · 2022Article
- Predictive functional, statistical and structural analysis ofFrontiers in molecular biosciences · 2022Article
- The Okur-Chung Neurodevelopmental Syndrome Mutation CK2Frontiers in molecular biosciences · 2022Article
- Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 4 countries.
Funding
Abstract
The Okur-Chung neurodevelopmental syndrome, or OCNDS, is a newly discovered rare neurodevelopmental disorder. It is characterized by developmental delay, intellectual disability, behavioral problems (hyperactivity, repetitive movements and social interaction deficits), hypotonia, epilepsy and language/verbalization deficits. OCNDS is linked to de novo mutations in CSNK2A1, that lead to missense or deletion/truncating variants in the encoded protein, the protein kinase CK2α. Eighteen different missense CK2α mutations have been identified to date; however, no biochemical or cell biological studies have yet been performed to clarify the functional impact of such mutations. Here, we show that 15 different missense CK2α mutations lead to varying degrees of loss of kinase activity as recombinant purified proteins and when mutants are ectopically expressed in mammalian cells. We further detect changes in the phosphoproteome of three patient-derived fibroblast lines and show that the subcellular localization of CK2α is altered for some of the OCNDS-linked variants and in patient-derived fibroblasts. Our data argue that reduced kinase activity and abnormal localization of CK2α may underlie the OCNDS phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.