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Related Experiment Video

Updated: Mar 24, 2026

A Unified Methodological Framework for Vestibular Schwannoma Research

A Unified Methodological Framework for Vestibular Schwannoma Research

Published on: June 20, 2017

Vici syndrome: a review.

Susan Byrne¹, Carlo Dionisi-Vici², Luke Smith³

¹Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

Orphanet Journal of Rare Diseases

|March 2, 2016

Summary

This summary is machine-generated.

Vici syndrome is a severe congenital disorder caused by EPG5 gene mutations, affecting autophagy. This genetic condition leads to multisystem issues and reduced lifespan, highlighting a need for targeted therapies.

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Area of Science:

Genetics
Cell Biology
Developmental Biology

Background:

Vici syndrome is a severe, recessively inherited congenital disorder.
Key features include callosal agenesis, cataracts, hypopigmentation, cardiomyopathy, and immunodeficiency.
Patients exhibit developmental delay, failure to thrive, and microcephaly, suggesting neurodegeneration.

Purpose of the Study:

To describe the genetic basis and clinical spectrum of Vici syndrome.
To elucidate the role of EPG5 in autophagy and its dysfunction in Vici syndrome.
To differentiate Vici syndrome from other genetic and neurological disorders.

Main Methods:

Genetic analysis of mutations in the EPG5 gene.
Clinical evaluation of patients with Vici syndrome.
Review of existing literature on Vici syndrome and autophagy.

Main Results:

Vici syndrome is caused by recessive mutations in the EPG5 gene, which encodes a key autophagy regulator.
Approximately 40 EPG5 mutations have been identified, mostly truncating.
Consistent skeletal myopathy with specific histological features is observed.

Conclusions:

Vici syndrome represents a congenital disorder of autophagy due to EPG5 mutations.
Understanding the autophagy defect is crucial for developing future targeted therapies.
Early diagnosis and supportive management are essential given the reduced life expectancy.