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Vici Syndrome with Novel Compound Heterozygous Mutations in EPG5  

Shin, Jehee (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine)
Lee, Hyunjoo (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine)
Lee, Young-Mock (Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.20, no.2, 2020 , pp. 50-54 More about this Journal
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.
Keywords
Vici syndrome; EPG5 gene; Hypotonia; Cataract; Cardiomyopathy; Autophagy; Development delay; Hypopigmentation;
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