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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.

Last updated: Aug 26, 2026•0 RCTs•📖 Read as article →

Evidence Score

Evidence Score32/100
Human RCT☆☆☆☆☆
Meta-analysis☆☆☆☆☆
Mechanism★★★★★
Safety★★★★☆
Confidencelow

Study Evidence

Study 1. A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

observational

Li X, Wang S, Liu X, Wang Z, Lv N, Wang S, Yang W · Molecular genetics & genomic medicine (2025)

Participants: N/A
Duration: N/A
Intervention: Whole-exome sequencing (WES) to identify genetic etiology; retrospective literature review of 65 OCNDS cases
Outcome: Presence of sleep disorders, autism spectrum disorders, short stature, developmental delays, intellectual disability, facial deformity, language disorder
Effect Size: N/A
Population: One child from Dongying People's Hospital (July 2024) plus 65 previously reported OCNDS patients from literature databases

Result:

PubMed: 41395761DOI: 10.1002/mgg3.70166

Mechanism Graph

CSNK2A1 gene variant (c.149A>G:p.Tyr50Cys) occurs in Glycine-Rich loop domain
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Variant disrupts protein spatial conformation
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Impairs kinase function
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Results in OCNDS phenotype including sleep disorders

Limitations

  • ⚠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.

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References

  1. 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
Disclaimer: This content is for educational purposes only and is not medical advice. Evidence scores reflect the quality and quantity of available research, not clinical recommendations. Always consult a healthcare professional before starting any supplement or intervention.