Novel WDR26 variant in a Chinese patient with Skraban-Deardorff syndrome: a case report and literature review

Abstract

De novo variants of the WDR26 gene leading to haploinsufficiency have recently been associated with Skraban-Deardorff syndrome. The syndrome is an extremely rare autosomal dominant neurodevelopmental disorder that exhibits a wide range of clinical features including intellectual disability, delays in development, seizures, unusual facial characteristics, weak muscle tone, abnormal walking pattern, and multiple structural abnormalities. Here, we report a Chinese pediatric case of Skraban-Deardorff syndrome, wherein genetic testing revealed a novel de novo, heterozygous frameshift variant c.271delA (p.Thr91Profs*40) of the WDR26 gene. By reviewing previously reported cases, we found that dysfunction of the WDR26 gene does not necessarily accompany the occurrence of seizures. To date, epilepsy has not been a major symptom in any of the reported cases in China. Instead, delayed language development should be considered as the typical clinical phenotype of Skraban-Deardorff syndrome. It is worth noting that while epilepsy can be managed by medication, delayed language development does not have a straightforward treatment. If timely and adequate language interventional therapy and alternative communication methods are not implemented, the prognosis of children with Skraban-Deardorff syndrome may be significantly compromised.