Vici Syndrome with a Novel Mutation in EPG5

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.