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EPG5 유전자 변이가 확인된 Vici 증후군 1례

Other Titles
 Vici Syndrome with Novel Compound Heterozygous Mutations in EPG5 
Authors
 신제희  ;  이현주  ;  이영목 
Citation
 Journal of the Korean Society of Inherited Metabolic Disease (대한유전성대사질환학회지), Vol.20(2) : 50-54, 2020-12 
Journal Title
Journal of the Korean Society of Inherited Metabolic Disease(대한유전성대사질환학회지)
ISSN
 2234-8751 
Issue Date
2020-12
Keywords
Vici syndrome ; EPG5 gene ; Hypotonia ; Cataract ; Cardiomyopathy ; Autophagy ; Development delay ; Hypopigmentation
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.
Files in This Item:
T202007136.pdf Download
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Shin, Je Hee(신제희)
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Hyun Joo(이현주) ORCID logo https://orcid.org/0000-0002-1432-0449
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/183837
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