• Title/Summary/Keyword: Vici syndrome

Search Result 1, Processing Time 0.015 seconds

Vici Syndrome with Novel Compound Heterozygous Mutations in EPG5 (EPG5 유전자 변이가 확인된 Vici 증후군 1례)

  • Shin, Jehee;Lee, Hyunjoo;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.20 no.2
    • /
    • pp.50-54
    • /
    • 2020
  • 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.