Novel WDR26 variant in a Chinese patient with Skraban-Deardorff syndrome: a case report and literature review
TL;DR
By reviewing previously reported cases, it is found that dysfunction of the WDR26 gene does not necessarily accompany the occurrence of seizures, and delayed language development should be considered as the typical clinical phenotype of Skraban-Deardorff syndrome.
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.