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Condition report · Neurological

Vici Syndrome (EPG5)

Whole genome sequencing reads the EPG5 gene for the changes in both copies that cause Vici syndrome, a rare condition affecting the brain, eyes, heart, skin colour and immune system.

A condition report looks for rare variants known to cause the conditions it covers.

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About this condition

A rare and severe multisystem condition affecting brain development, the eyes, heart, skin colour and immune system. It is caused by changes in both copies of the EPG5 gene, which is needed for autophagy, the cell's recycling system.

Vici syndrome is a rare and severe condition that affects many body systems from birth. Its characteristic features include absence of the corpus callosum, the band of tissue linking the two halves of the brain, along with profound developmental delay, a small head size and cataracts. Skin and hair are often lighter than in family members, and heart muscle disease is common.

It is caused by changes in both copies of EPG5, a gene needed for autophagy, the cell's recycling system. The protein helps autophagosomes fuse with lysosomes so that worn-out material can be broken down. Because the immune system is also affected, children often have recurrent infections, and chest infections need rigorous and early treatment.

Survival is often limited, and little is known about life span at the milder end of the range. The condition is inherited in an autosomal recessive way, and many affected children are born to related parents. If both parents carry a change, each sibling of an affected child has a 25% chance of being affected, so carrier testing for relatives and prenatal testing are possible once the changes are known. There is no cure, and care is supportive and multidisciplinary.

The condition we analyse

Autosomal recessive

Caused by changes in both copies of EPG5, which helps autophagosomes fuse with lysosomes during autophagy. Defective autophagy can affect several body systems, including the brain, heart and immune system.

Signs and symptoms

Absence of the corpus callosum and other brain differences, profound developmental delay, small head size after birth, cataracts, light skin and hair compared with family members, cardiomyopathy, and recurrent infections from immune deficiency. Many children have low muscle tone and failure to thrive. Less often there are seizures, hearing loss, or kidney or liver involvement; survival is often limited.

What a diagnosis changes

Multidisciplinary supportive care, including heart, eye, neurology and immune assessment, early treatment of chest infections, and nutrition support. Parents of an affected child are usually both carriers, so genetic counselling, carrier testing and options for prenatal testing can be discussed.

Genes analysed

Also known as

absent corpus callosum cataract immunodeficiency; absent corpus callosum-cataract-immunodeficiency syndrome; corpus callosum agenesis-cataract-immunodeficiency syndrome; Dionisi Vici Sabetta Gambarara syndrome; immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum; VICIS

MONDO:0009452OMIM 242840Orphanet 1493MedGen 340962Sources: [1][2][3]

Why whole genome sequencing

Vici syndrome is recessive, so the chance of another affected child depends on whether both parents carry a change in EPG5.

Carrier testing can help families plan

When both parents carry a change, each further child has a 1 in 4 chance of being affected, a 1 in 2 chance of being a carrier, and a 1 in 4 chance of inheriting neither. Carrier testing of at-risk relatives and prenatal or preimplantation testing are possible once the changes are known.

Infections need early treatment

Immune deficiency makes chest infections dangerous, so rigorous and early antibacterial and antifungal treatment is advised, potentially in an intensive care setting. Care from heart, eye, neurology and immune specialists is also part of routine support.

References

  1. Dafsari HS, Ebrahimi-Fakhari D, Saffari A, Deneubourg C, Fanto M, Jungbluth H, 2022. EPG5-Related Disorder. GeneReviews
  2. Vici syndrome. MedlinePlus Genetics
  3. EPG5 gene. MedlinePlus Genetics

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