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Pancreatic involvement in EPG5-related disorders
Dennis T Famili1, Gehad Elghazali2, Emanuela Argili3
1Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom.
Molecular Genetics and Metabolism Reports
|November 28, 2025
Summary
Vici syndrome, a disorder linked to EPG5 gene mutations, can affect the pancreas. This study identifies pancreatic issues, including pancreatitis, in patients with Vici syndrome, expanding its known symptoms.
Area of Science:
- Genetics and Molecular Biology
- Cellular Biology and Autophagy
- Gastroenterology and Pancreatic Diseases
Background:
- Vici syndrome (VS) is a severe neurodevelopmental disorder caused by EPG5 mutations, affecting autophagy, a key cellular process.
- Pancreatitis, an inflammatory pancreatic condition, has common causes like gallstones and alcohol, but genetic factors are also implicated.
- Autophagy plays a crucial role in maintaining pancreatic health and preventing autodigestion.
Purpose of the Study:
- To investigate and report previously unrecognized pancreatic involvement in patients with EPG5-related Vici syndrome.
- To explore the potential role of autophagy defects in the pathogenesis of pancreatitis.
- To expand the known phenotypic spectrum of EPG5-related disorders.
Main Methods:
- Clinical case study of 3 patients with EPG5-related Vici syndrome.
- Assessment of pancreatic function, including amylase levels.
- Literature review on the role of autophagy and autophagy-related genes in pancreatic function and disease.
Main Results:
- Three patients with EPG5-related Vici syndrome exhibited pancreatic involvement, ranging from elevated amylase to acute pancreatitis and pancreatic insufficiency.
- Literature review suggests autophagy defects may contribute to pancreatitis through mechanisms like abnormal vacuole formation, trypsinogen activation, and mitochondrial dysfunction.
- These findings highlight a novel aspect of Vici syndrome's phenotypic presentation.
Conclusions:
- EPG5 and other autophagy-related genes are crucial for normal pancreatic function.
- Pancreatic involvement, including pancreatitis, should be considered in the clinical evaluation of Vici syndrome.
- This study broadens the understanding of EPG5-related disorders and the role of autophagy in pancreatic health.
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