Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.

Autor: You Y; Department of Imaging, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China., Wu W; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China., Du Y; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China., Hu J; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China., Li B; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China.; Key Laboratory of Pediatric Epilepsy and Neurological Disorders of Hebei Province, Shijiazhuang, P.R. China.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2500.
DOI: 10.1002/mgg3.2500
Abstrakt: Background: Variations in the WWOX gene have been identified as the leading cause of several central nervous system disorders. However, most previous reports have focused on the description of clinical phenotype, neglecting functional verification. Herein, we presented a case of a patient with developmental epileptic encephalopathy (DEE) caused by WWOX gene variation.
Case Presentation: Our patient was a 13-month-old girl with abnormal facial features, including facial hypotonia, arched eyebrows, a broad nose, and a depressed nasal bridge. She also had sparse and yellow hair, a low anterior hairline, and a short neck. Before the age of 8 months, she was suffering from mild seizures. Her developmental delay gradually worsened, and she suffered infantile spasms. After treatment with vigabatrin, seizures subsided. WWOX gene homozygous variation c.172+1G>C was identified using whole exome sequencing. Further minigene assay confirmed that the variation site affected splicing, causing protein truncation and affecting its function.
Conclusion: Clinical phenotype and minigene results suggest that WWOX gene homozygous variation c.172+1G>C can cause severe DEE. We also concluded that vigabatrin can effectively treat seizures.
(© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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