Vici Syndrome with a Novel Mutation in EPG5

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Amita Moirangthem1, Kausik Mandal1, Apurba Ghosh2

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India.

Indian Pediatrics
|July 24, 2019
PubMed

Insights

Vici syndrome, a rare neurodevelopmental disorder affecting the autophagy pathway, presents with key features like agenesis of corpus callosum and cardiomyopathy. Genetic analysis identified a novel EPG5 mutation in a patient, aiding diagnosis and family counseling.

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Vici syndrome is a rare neurodevelopmental disorder characterized by dysfunction of the autophagy pathway.
  • Cardinal features include agenesis of corpus callosum, cataracts, cardiomyopathy, immunodeficiency, and hypopigmentation.

Observation:

  • An 8-month-old boy presented with global developmental delay, myoclonic jerks, recurrent respiratory infections, coarse facial features, cataracts, and hypopigmented hair.
  • Brain MRI indicated agenesis of the corpus callosum, and echocardiography revealed dilated cardiomyopathy.

Findings:

  • Exome sequencing identified a novel homozygous nonsense mutation in the EPG5 gene in the affected patient.
  • This genetic finding confirms a molecular basis for Vici syndrome in this case.

Implications:

  • Accurate diagnosis of Vici syndrome enables precise prognostication and genetic counseling for affected families.
  • Prenatal diagnosis becomes feasible, offering crucial reproductive options.
  • Recognizing characteristic clinical features aids in the early identification of Vici syndrome as a cause of developmental delay.
Abstract

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