eIF2B-related multisystem disorder in two sisters with atypical presentations
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, Jin Sook | - |
dc.contributor.author | Lee, Sangmoon | - |
dc.contributor.author | Choi, Murim | - |
dc.contributor.author | Lim, Byung Chan | - |
dc.contributor.author | Choi, Jieun | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Cheon, Jung-Eun | - |
dc.contributor.author | Kim, In-One | - |
dc.contributor.author | Chae, Jong-Hee | - |
dc.date.available | 2020-02-27T19:42:49Z | - |
dc.date.created | 2020-02-07 | - |
dc.date.issued | 2017-03 | - |
dc.identifier.issn | 1090-3798 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/6349 | - |
dc.description.abstract | Background: Vanishing white matter disease (VWM) is a chronic progressive leukoencephalopathy that is characterized by cerebellar ataxia and spasticity, together with cystic degeneration of the cerebral white matter as evidenced by brain magnetic resonance imaging (MRI). Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy. Case presentation: The index case had a history of hepatomegaly and intermittent vomiting after upper respiratory infection at 11 months of age. Her older brothers had died at an early age, one with similar symptoms and the other because of septic shock. Her older sister had similar presenting symptoms; she later suffered from both cataracts and primary amenorrhea, but showed neurological improvement. Her follow-up MRIs (at 21 years of age) revealed progressive diffuse brain atrophy with leukoencephalopathy, without cystic rarefaction. Whole-exome sequencing of the index case revealed the presence of the compound heterozygous variants, Va185Glu and Met226Lys in EIF2B2. The affected sister had the same compound heterozygous variants, and their unaffected parents were heterozygous carriers of each variant. Conclusions: This study expanded the clinical and genetic spectrum of VWM with EIF2B2 variants. It would be better to consider VWM as an eIF2B-related multisystem disorder, not just as a neurological disorder, on the basis that this is a family of housekeeping genes that affect multiple organs. (C) 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | ELSEVIER SCI LTD | - |
dc.relation.isPartOf | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | - |
dc.subject | VANISHING WHITE-MATTER | - |
dc.subject | NATURAL-HISTORY | - |
dc.subject | DISEASE | - |
dc.subject | LEUKOENCEPHALOPATHY | - |
dc.subject | ONSET | - |
dc.subject | GENOTYPE | - |
dc.title | eIF2B-related multisystem disorder in two sisters with atypical presentations | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000395954600026 | - |
dc.identifier.doi | 10.1016/j.ejpn.2016.07.010 | - |
dc.identifier.bibliographicCitation | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, v.21, no.2, pp.404 - 409 | - |
dc.identifier.scopusid | 2-s2.0-85009353114 | - |
dc.citation.endPage | 409 | - |
dc.citation.startPage | 404 | - |
dc.citation.title | EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | - |
dc.citation.volume | 21 | - |
dc.citation.number | 2 | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sook | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Vanishing white matter disease | - |
dc.subject.keywordAuthor | EIF2B2 | - |
dc.subject.keywordAuthor | Leukoencephalopathy | - |
dc.subject.keywordAuthor | Whole-exome sequencing | - |
dc.subject.keywordAuthor | Cataract | - |
dc.subject.keywordAuthor | Amenorrhea | - |
dc.subject.keywordPlus | VANISHING WHITE-MATTER | - |
dc.subject.keywordPlus | NATURAL-HISTORY | - |
dc.subject.keywordPlus | DISEASE | - |
dc.subject.keywordPlus | LEUKOENCEPHALOPATHY | - |
dc.subject.keywordPlus | ONSET | - |
dc.subject.keywordPlus | GENOTYPE | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalResearchArea | Pediatrics | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Pediatrics | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
1342, Seongnam-daero, Sujeong-gu, Seongnam-si, Gyeonggi-do, Republic of Korea(13120)031-750-5114
COPYRIGHT 2020 Gachon University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.