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EPG5 유전자 변이가 확인된 Vici 증후군 1례
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 신제희 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이현주 | - |
dc.date.accessioned | 2021-09-29T00:26:57Z | - |
dc.date.available | 2021-09-29T00:26:57Z | - |
dc.date.issued | 2020-12 | - |
dc.identifier.issn | 2234-8751 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/183837 | - |
dc.description.abstract | Vici 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.statementOfResponsibility | open | - |
dc.language | Korean | - |
dc.publisher | 대한유전성대사질환학회 | - |
dc.relation.isPartOf | Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | EPG5 유전자 변이가 확인된 Vici 증후군 1례 | - |
dc.title.alternative | Vici Syndrome with Novel Compound Heterozygous Mutations in EPG5 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | 신제희 | - |
dc.contributor.googleauthor | 이현주 | - |
dc.contributor.googleauthor | 이영목 | - |
dc.contributor.localId | A06094 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A04645 | - |
dc.relation.journalcode | J01876 | - |
dc.subject.keyword | Vici syndrome | - |
dc.subject.keyword | EPG5 gene | - |
dc.subject.keyword | Hypotonia | - |
dc.subject.keyword | Cataract | - |
dc.subject.keyword | Cardiomyopathy | - |
dc.subject.keyword | Autophagy | - |
dc.subject.keyword | Development delay | - |
dc.subject.keyword | Hypopigmentation | - |
dc.contributor.alternativeName | Shin, Je Hee | - |
dc.contributor.affiliatedAuthor | 신제희 | - |
dc.contributor.affiliatedAuthor | 이영목 | - |
dc.contributor.affiliatedAuthor | 이현주 | - |
dc.citation.volume | 20 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 50 | - |
dc.citation.endPage | 54 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.20(2) : 50-54, 2020-12 | - |
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