To report a novel de novo variant of the WDR26 gene in a Chinese child with Skraban-Deardorff syndrome and review existing literature on the syndrome.
Approach:
Literature Review: Comparison of the clinical features of the reported case with previously documented cases of Skraban-Deardorff syndrome to identify similarities and differences.
Key Findings:
The patient exhibited a novel heterozygous frameshift variant c.271delA (p.Thr91Profs*40) in the WDR26 gene.
Delayed language development is a typical clinical phenotype of Skraban-Deardorff syndrome.
Seizures have not been a major symptom in reported cases in China.
Interpretation:
Limitations:
Limited number of reported cases in the Chinese population.
Lack of detailed clinical descriptions for some previously reported cases.
Conclusion:
The study emphasizes the need for awareness of the clinical features of Skraban-Deardorff syndrome.
