ArticleHuman genetics2016
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
56 citing papers in PubMed, 3 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.Molecular genetics & genomic medicine · 2025Pooled it
- Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.Molecular genetics & genomic medicine · 2024Pooled it
- Identification of novelThe Journal of international medical research · 2021Pooled 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
- A recurrentBiochemistry and biophysics reports · 2026Article
- Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.Molecular psychiatry · 2026Article
- Casein kinase 2 maintains the self-renewal of neural stem cells via prospero phosphorylation in Drosophila.Cell & bioscience · 2026Article
- Gene expression changes in pancreatic α-cell lines following knock-out Of either CK2α or CK2α'.Biological research · 2025Article
- Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.American journal of medical genetics. Part A · 2025Article
- Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.European journal of pediatrics · 2025Article
- Systems genetics reveals the influence of expression QTLs in mouse embryonic stem cells on transcriptional variation later in differentiated neural progenitor cells.G3 (Bethesda, Md.) · 2025Article
- CSNK2B Mutation: A Rare Cause of IGHD.Clinical endocrinology · 2025Article
- 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
- A Dual Diagnosis of Okur-Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy.Brain and behavior · 2025Article
- Cross cell-type systems genetics reveals the influence of eQTL at multiple points in the developmental trajectory of mouse neural progenitor cells.bioRxiv : the preprint server for biology · 2025Article
- Article
- Identification and functional analysis of a novelFrontiers in genetics · 2025Article
- OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.Frontiers in human neuroscience · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a neurodevelopmental disorder associated with developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and dysmorphic features in whom we have identified de novo missense and canonical splice site mutations in CSNK2A1, the gene encoding CK2α, the catalytic subunit of protein kinase CK2, a ubiquitous serine/threonine kinase composed of two regulatory (β) and two catalytic (α and/or α') subunits. Somatic mutations in CSNK2A1 have been implicated in various cancers; however, this is the first study to describe a human condition associated with germline mutations in any of the CK2 subunits.
Indexed as
Identifiers
What OpenQuestion holds
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.