Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene
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 wi...
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Wiley
2024-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.2500 |
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| author | Yang You Wenjuan Wu Yakun Du Jintong Hu Baoguang Li |
| author_facet | Yang You Wenjuan Wu Yakun Du Jintong Hu Baoguang Li |
| author_sort | Yang You |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-11f8c2cee0fc4677857d93ebe01e9a7e |
| institution | OA Journals |
| issn | 2324-9269 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Wiley |
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| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj-art-11f8c2cee0fc4677857d93ebe01e9a7e2025-08-20T02:36:09ZengWileyMolecular Genetics & Genomic Medicine2324-92692024-08-01128n/an/a10.1002/mgg3.2500Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX geneYang You0Wenjuan Wu1Yakun Du2Jintong Hu3Baoguang Li4Department of Imaging The Fourth Hospital of Hebei Medical University Shijiazhuang Hebei P.R. ChinaDepartment of Neurology Hebei Medical University, Hebei Children's Hospital Shijiazhuang Hebei P.R. ChinaDepartment of Neurology Hebei Medical University, Hebei Children's Hospital Shijiazhuang Hebei P.R. ChinaDepartment of Neurology Hebei Medical University, Hebei Children's Hospital Shijiazhuang Hebei P.R. ChinaDepartment of Neurology Hebei Medical University, Hebei Children's Hospital Shijiazhuang Hebei P.R. ChinaAbstract 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.https://doi.org/10.1002/mgg3.2500developmental epileptic encephalopathyepilepsyWWOX |
| spellingShingle | Yang You Wenjuan Wu Yakun Du Jintong Hu Baoguang Li Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene Molecular Genetics & Genomic Medicine developmental epileptic encephalopathy epilepsy WWOX |
| title | Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene |
| title_full | Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene |
| title_fullStr | Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene |
| title_full_unstemmed | Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene |
| title_short | Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene |
| title_sort | developmental epileptic encephalopathy caused by homozygosity of a c 172 1g c variant in the wwox gene |
| topic | developmental epileptic encephalopathy epilepsy WWOX |
| url | https://doi.org/10.1002/mgg3.2500 |
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