CSNK2A1 gene variant (c.149A>G:p.Tyr50Cys) causes Okur-Chung neurodevelopmental syndrome with sleep disorders as a key clinical feature
This study identified a de novo heterozygous mutation (NM_001895.4: c.149A>G:p.Tyr50Cys) in the CSNK2A1 gene as a cause of Okur-Chung neurodevelopmental syndrome (OCNDS) in a child. A retrospective analysis of 65 OCNDS patients found that sleep disorders, along with autism spectrum disorders, short stature, and developmental delays, were significant clinical characteristics. The variant is located in the Glycine-Rich loop domain of the kinase, disrupting protein spatial conformation and function.
This article is automatically generated from the structured evidence profile behind the claim above. Scores reflect the quality and quantity of available research, not clinical advice.
CSNK2A1 gene variant (c.149A>G:p.Tyr50Cys) causes Okur-Chung neurodevelopmental syndrome with sleep disorders as a key clinical feature The current body of evidence comprises 1 study. EvidenceHub rates the overall confidence at 32/100 (low).
The Claim
CSNK2A1 gene variant (c.149A>G:p.Tyr50Cys) causes Okur-Chung neurodevelopmental syndrome with sleep disorders as a key clinical feature
This conclusion is most relevant to: One child from Dongying People's Hospital (July 2024) plus 65 previously reported OCNDS patients from literature databases.
What the Research Shows
The conclusion draws on 1 linked study. Highlights from the cited literature:
- ▸A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum. (Molecular genetics & genomic medicine, 2025) —
How It Works
The proposed biological pathway:
- ▸CSNK2A1 gene variant (c.149A>G:p.Tyr50Cys) occurs in Glycine-Rich loop domain
- ▸Variant disrupts protein spatial conformation
- ▸Impairs kinase function
- ▸Results in OCNDS phenotype including sleep disorders
Who Might Benefit
Evidence fit by population:
- ▸One child from Dongying People's Hospital (July 2024) plus 65 previously reported OCNDS patients from literature databases
Recommended Dose
N/A
Limitations & Caveats
Important context when interpreting this evidence:
- ▸Small sample size (single case report plus retrospective analysis of 65 patients)
- ▸No direct experimental validation of functional impact of the variant on sleep regulation
Frequently Asked Questions
What is Okur-Chung neurodevelopmental syndrome?▼
OCNDS is a rare genetic disorder caused by mutations in the CSNK2A1 gene, characterized by developmental delay, intellectual disability, facial dysmorphism, language disorder, and other system abnormalities including sleep disorders.
How common are sleep disorders in OCNDS?▼
The study found significant differences in sleep disorders among OCNDS patients, indicating they are a notable clinical feature, though exact prevalence rates were not specified in the abstract.
What does the CSNK2A1 gene do?▼
CSNK2A1 encodes the alpha subunit of casein kinase 2, a protein kinase involved in various cellular processes including cell cycle control, DNA repair, and circadian rhythm regulation.
Is this variant inherited or de novo?▼
The specific variant c.149A>G:p.Tyr50Cys was identified as de novo, meaning it occurred spontaneously in the patient and was not inherited from either parent.
References
- 1.Li X, Wang S, Liu X, Wang Z, Lv N, Wang S, Yang W. “A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum..” Molecular genetics & genomic medicine, 2025. PMID: 41395761 DOI: 10.1002/mgg3.70166