دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.
المؤلفون: 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.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2500.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: WW Domain-Containing Oxidoreductase*/genetics , Homozygote* , Spasms, Infantile*/genetics , Spasms, Infantile*/pathology , Phenotype*, Humans ; Female ; Infant ; Anticonvulsants/therapeutic use ; Mutation ; Vigabatrin/therapeutic use ; Tumor Suppressor Proteins
مستخلص: 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.)
References: Int J Mol Sci. 2020 Nov 24;21(23):. (PMID: 33255508)
EMBO Mol Med. 2021 Dec 7;13(12):e14599. (PMID: 34747138)
Brain. 2021 Nov 29;144(10):3061-3077. (PMID: 33914858)
Epileptic Disord. 2020 Feb 1;22(1):120-124. (PMID: 32051108)
Neurobiol Dis. 2021 Dec;160:105529. (PMID: 34634460)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Hum Mutat. 2019 Jan;40(1):42-47. (PMID: 30362252)
Brain Dev. 2019 Nov;41(10):888-893. (PMID: 31353122)
Genet Med. 2019 Jun;21(6):1308-1318. (PMID: 30356099)
J Biol Chem. 2005 Dec 30;280(52):43100-8. (PMID: 16219768)
Neurobiol Dis. 2019 Jan;121:163-176. (PMID: 30290271)
Cells. 2021 Nov 09;10(11):. (PMID: 34831305)
Transl Neurosci. 2018 Dec 31;9:203-208. (PMID: 30746283)
Epileptic Disord. 2018 Oct 1;20(5):401-412. (PMID: 30361190)
Brain. 2021 Feb 12;144(1):32-43. (PMID: 33279965)
EMBO Mol Med. 2021 Aug 9;13(8):e13610. (PMID: 34268881)
Brain. 2014 Feb;137(Pt 2):411-9. (PMID: 24369382)
Exp Biol Med (Maywood). 2020 Jul;245(13):1122-1129. (PMID: 32389029)
J Mol Med (Berl). 2022 Dec;100(12):1691-1702. (PMID: 36271927)
Epilepsia. 2023 May;64(5):1351-1367. (PMID: 36779245)
Int J Mol Sci. 2019 Jul 23;20(14):. (PMID: 31340538)
Neurogenetics. 2018 Aug;19(3):151-156. (PMID: 29808465)
Cancer Res. 2000 Apr 15;60(8):2140-5. (PMID: 10786676)
Neurol Sci. 2018 Nov;39(11):1977-1980. (PMID: 30094525)
فهرسة مساهمة: Keywords: WWOX; developmental epileptic encephalopathy; epilepsy
المشرفين على المادة: EC 1.1.1.- (WW Domain-Containing Oxidoreductase)
EC 1.1.1.- (WWOX protein, human)
0 (Anticonvulsants)
GR120KRT6K (Vigabatrin)
0 (Tumor Suppressor Proteins)
تواريخ الأحداث: Date Created: 20240805 Date Completed: 20240805 Latest Revision: 20240807
رمز التحديث: 20240807
مُعرف محوري في PubMed: PMC11298992
DOI: 10.1002/mgg3.2500
PMID: 39101447
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.2500