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Correlation between vanishing white matter disease and novel heterozygous EIF2B3 variants using next-generation sequencing: A case report
DC Field | Value | Language |
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dc.contributor.author | Hyun, Sung Eun | - |
dc.contributor.author | Choi, Byung Se | - |
dc.contributor.author | Jang, Ja-Hyun | - |
dc.contributor.author | Jeon, Inpyo | - |
dc.contributor.author | Jang, Dae-Hyun | - |
dc.contributor.author | Ryu, Ju Seok | - |
dc.date.accessioned | 2023-12-11T05:26:48Z | - |
dc.date.available | 2023-12-11T05:26:48Z | - |
dc.date.created | 2020-02-18 | - |
dc.date.issued | 2019-04 | - |
dc.identifier.citation | Annals of Rehabilitation Medicine, Vol.43 No.2, pp.234-238 | - |
dc.identifier.issn | 2234-0645 | - |
dc.identifier.uri | https://hdl.handle.net/10371/198255 | - |
dc.description.abstract | Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any of the EIF2B1-5 genes. Any dysfunction of the EIF2B1-5 gene encoded eIF2B causes stress-provoked episodic rapid neurological deterioration in the patient, followed by a chronic progressive disease course. We present the case of a patient with an infantileonset VWM with the pre-described specific clinical course, subsequent neurological aggravation induced by each viral infection, and the noted consequent progression into a comatose state. Although the initial brain magnetic resonance imaging did not reveal specific pathognomonic signs of VWM to distinguish it from other types of demyelinating leukodystrophy, the next-generation sequencing studies identified heterozygous missense variants in EIF2B3, including a novel variant in exon 7 (C706G), as well as a 0.008% frequency reported variant in exon 2 (T89C). Hence, the characteristic of unbiased genomic sequencing can clinically affect patient care and decision-making, especially in terms of the consideration of genetic disorders such as leukoencephalopathy in pediatric patients. | - |
dc.language | 영어 | - |
dc.publisher | 대한재활의학회 | - |
dc.title | Correlation between vanishing white matter disease and novel heterozygous EIF2B3 variants using next-generation sequencing: A case report | - |
dc.type | Article | - |
dc.identifier.doi | 10.5535/arm.2019.43.2.234 | - |
dc.citation.journaltitle | Annals of Rehabilitation Medicine | - |
dc.identifier.wosid | 000466557900014 | - |
dc.identifier.scopusid | 2-s2.0-85065604372 | - |
dc.citation.endpage | 238 | - |
dc.citation.number | 2 | - |
dc.citation.startpage | 234 | - |
dc.citation.volume | 43 | - |
dc.identifier.kciid | ART002460562 | - |
dc.description.isOpenAccess | Y | - |
dc.contributor.affiliatedAuthor | Ryu, Ju Seok | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | MUTATION | - |
dc.subject.keywordAuthor | Vanishing white matter | - |
dc.subject.keywordAuthor | Leukoencephalopathies | - |
dc.subject.keywordAuthor | Genes | - |
dc.subject.keywordAuthor | Exome | - |
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