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KMID : 0918520200200020050
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Journal of the Korean Society of Inherited Metabolic Disease
2020 Volume.20 No. 2 p.50 ~ p.54
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Vici Syndrome with Novel Compound Heterozygous Mutations in EPG5
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Shin Je-Hee
Lee Hyun-Joo
Lee Young-Mock
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Abstract
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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.
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KEYWORD
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Vici syndrome, EPG5 gene, Hypotonia, Cataract, Cardiomyopathy, Autophagy, Development delay, Hypopigmentation
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