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Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.
You, Yang; Wu, Wenjuan; Du, Yakun; Hu, Jintong; Li, Baoguang.
Afiliación
  • 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.
Mol Genet Genomic Med ; 12(8): e2500, 2024 Aug.
Article en En | MEDLINE | ID: mdl-39101447
ABSTRACT

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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Espasmos Infantiles / Oxidorreductasa que Contiene Dominios WW / Homocigoto Límite: Female / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Espasmos Infantiles / Oxidorreductasa que Contiene Dominios WW / Homocigoto Límite: Female / Humans / Infant Idioma: En Revista: Mol Genet Genomic Med Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos