22 66

Cited 0 times in

EPG5 유전자 변이가 확인된 Vici 증후군 1례

DC Field Value Language
dc.contributor.author신제희-
dc.contributor.author이영목-
dc.contributor.author이현주-
dc.contributor.author이영목-
dc.contributor.author이현주-
dc.date.accessioned2021-09-29T00:26:57Z-
dc.date.available2021-09-29T00:26:57Z-
dc.date.issued2020-12-
dc.identifier.issn2234-8751-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/183837-
dc.description.abstractVici syndrome is a rare, autosomal recessive multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, immunodeficiency, and delayed development. We report the case of a 3-year-old boy diagnosed with Vici syndrome. He initially presented with hypotonia and sucking problem. Whole-exome sequencing identified novel compound heterozygous mutations, namely c.2254C>T (p.Gln752Ter) and c.5511-5518+2 del TATGCAAAGT in the EPG5 gene. The diagnostic challenges can be attributed to the diverse clinical manifestations. Thus, whole-exome sequencing is a useful diagnostic tool for the genetically and clinically heterogeneous Vici syndrome. This is the first Korean report of a patient with Vici syndrome.-
dc.description.statementOfResponsibilityopen-
dc.languageKorean-
dc.publisher대한유전성대사질환학회-
dc.relation.isPartOfJournal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지)-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleEPG5 유전자 변이가 확인된 Vici 증후군 1례-
dc.title.alternativeVici Syndrome with Novel Compound Heterozygous Mutations in EPG5-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학교실)-
dc.contributor.googleauthor신제희-
dc.contributor.googleauthor이현주-
dc.contributor.googleauthor이영목-
dc.contributor.localIdA06094-
dc.contributor.localIdA02955-
dc.contributor.localIdA04645-
dc.contributor.localIdA02955-
dc.contributor.localIdA04645-
dc.relation.journalcodeJ01876-
dc.subject.keywordVici syndrome-
dc.subject.keywordEPG5 gene-
dc.subject.keywordHypotonia-
dc.subject.keywordCataract-
dc.subject.keywordCardiomyopathy-
dc.subject.keywordAutophagy-
dc.subject.keywordDevelopment delay-
dc.subject.keywordHypopigmentation-
dc.contributor.alternativeNameShin, Je Hee-
dc.contributor.affiliatedAuthor신제희-
dc.contributor.affiliatedAuthor이영목-
dc.contributor.affiliatedAuthor이현주-
dc.contributor.affiliatedAuthor이영목-
dc.contributor.affiliatedAuthor이현주-
dc.citation.volume20-
dc.citation.number2-
dc.citation.startPage50-
dc.citation.endPage54-
dc.identifier.bibliographicCitationJournal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.20(2) : 50-54, 2020-12-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.