Year: 2025
Type: article
Study design: Case Report
Abstract: WDFY3 is a critical gene involved in neuronal migration, autophagy, and vesicular transport during brain development. Pathogenic variants in WDFY3 gene are associated with a range of neurodevelopmental disorders, including autism spectrum disorder ASD, epilepsy, and intellectual disability. We present here a case of a female child with a de novo heterozygous WDFY3 variant (c.10189A>T; p.Thr3397Ser), identified through whole exome sequencing. The patient presented with microcephaly, global developmental delay, and epilepsy. Despite the presence of microcephaly, neuroimaging (MRI) revealed no significant abnormalities, a finding consistent with previous reports. Previous studies suggests that WDFY3 haploinsufficiency alters synaptic density and mitochondrial localization, contributing to neurodevelopmental impairments. In the current patient epilepsy was partially controlled with levetiracetam, and developmental therapies were enhanced with cannabidiol, resulting in some progress. This case expands the clinical spectrum of WDFY3-related disorders, emphasizing its key role in neurogenesis and synaptic plasticity. Early genetic diagnosis and personalized therapeutic approaches are crucial in managing such complex neurodevelopmental conditions. Further research is needed to explore the genotype-phenotype correlations and potential interventions for WDFY3-associated disorders.
Source: Journal of Pediatric Genetics
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4414966518