Clinical Report: Identification of a New WDR26 Variant in a Child with Skraban-Deardorff Syndrome

Background

Skraban-Deardorff syndrome is an extremely rare autosomal dominant neurodevelopmental disorder linked to variants in the WDR26 gene. The syndrome presents a diverse range of clinical features, including intellectual disability and developmental delays.

Data Highlights

Genetic testing revealed a novel de novo, heterozygous frameshift variant c.271delA (p.Thr91Profs*40) of the WDR26 gene in the patient.

Key Findings

• The patient exhibited significant developmental delays starting at 4 months of age.
• Physical examination indicated a weight below the 3rd percentile and height between the 10th and 20th percentiles.
• Assessment using the Bailey Criteria revealed a mental age equivalent to 4 months.
• Seizures were not a prominent feature in the reported cases of Skraban-Deardorff syndrome, including this case.
• Delayed language development is emphasized as a typical clinical phenotype of the syndrome.

Clinical Implications

Clinicians should be aware of the diverse clinical features and prioritize genetic testing in cases of unexplained developmental delays.

Conclusion

The identification of a novel WDR26 variant in this case contributes to the understanding of Skraban-Deardorff syndrome.

Related Resources & Content

1. Author(s)/Org, Source, Year -- Title
2. WDR26-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf, 2023 -- WDR26-Related Intellectual Disability
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7. Case Report: A de novo NSD2 multiple exon deletion variant in a child with Rauch-Steindl syndrome
8. Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome
9. 1q25.3–q32.1 deletion causing multisystem developmental delay: a case report and literature review
10. WDR26 curation results for Dosage Sensitivity
11. WDR26-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf