تقرير
Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter.
| العنوان: | Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter. |
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| المؤلفون: | Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, United States., Mar SS; Division of Pediatric Neurology, Department of Neurology, Washington University School of Medicine, St Louis, MO, United States., McKinstry RC; Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, United States., Nguyen H; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, United States. |
| المصدر: | Frontiers in genetics [Front Genet] 2022 Jun 17; Vol. 13, pp. 893057. Date of Electronic Publication: 2022 Jun 17 (Print Publication: 2022). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Research Foundation. |
| مستخلص: | Leukodystrophies are a group of heterogeneous disorders affecting brain myelin. Among those, childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM) is one of the more common inherited leukodystrophies. Pathogenic variants in one of the genes encoding five subunits of EIF2B are associated with CACH/VWM. Herein, we presented a case of CACH/VWM who developed ataxia following a minor head injury. Brain magnetic resonance imaging showed extensive white matter signal abnormality. Diagnosis of CACH/VWM was confirmed by the presence of compound heterozygous variants in EIF2B3 : the previously known pathogenic variant c c.260C>T ( p .Ala87Val) and the novel variant c.673C>T ( p .Arg225Trp). Based on the American College of Medical Genetics (ACMG) recommendations, we classified p .Arg225Trp as likely pathogenic. We report a novel variant in a patient with CACH/VWM and highlight the importance of genetic testing in patients with leukodystrophies. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Wongkittichote, Mar, McKinstry and Nguyen.) |
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| فهرسة مساهمة: | Keywords: EIF2B3; ataxia; childhood ataxia with central nervous system hypomyelination/vanishing white matter; developmental regression; leukodystrophy |
| تواريخ الأحداث: | Date Created: 20220705 Latest Revision: 20220716 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9247212 |
| DOI: | 10.3389/fgene.2022.893057 |
| PMID: | 35783294 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-8021 |
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| DOI: | 10.3389/fgene.2022.893057 |