Vici syndrome - EPG5 gene
Vici syndrome is a serious process characterized by abnormalities in various systems of the body including the brain, immune system, heart, skin and eyes, although it can affect other organs and tissues less frequently.
Signs related to the Vici syndrome include brain abnormalities such as agenesis of the corpus callosum, pontine hypoplasia and reduced myelin, brain tissue degeneration and microcephaly, leading to a profound developmental delay; hypotonia; impaired immune function; cardiomyopathy and other congenital heart defects; hypopigmentation of the skin and hair; as well as cataracts and other ocular abnormalities, which can reduce vision.
Less frequently, affected individuals have seizures; loss of sensorineural hearing; cleft lip with or without cleft palate or other unusual facial features; In addition, some people have abnormal function of the thyroid, liver or kidneys. Due to the severity of the condition, most people with Vici syndrome do not survive beyond 5 years.
This process is due to mutations in the EPG5 gene (ectopic P-granules autophagy protein 5 homolog), located on the long arm of chromosome 18 (18q12.3-q21.1), which encodes a protein involved in autophagy. In addition to its role in autophagy, the EPG5 protein helps the cell's ability to recognize infection from external invaders such as bacteria and viruses. The protein transports molecules from these invaders into the cells so that they can interact with proteins in the immune system that trigger reactions to fight the infection.
At least 60 mutations in the EPG5 gene have been described in individuals with Vici syndrome, most of which result in an abnormally short non-functional EPG5 protein. Without the activity of the EPG5 protein, foreign invaders cannot trigger immune reactions, which causes recurrent infections. In addition, autophagy is affected. Although problems with autophagy are thought to alter the normal development and survival of cells in the brain and other organs and tissues that require large amounts of energy, it is not clear how the deterioration results in the signs and symptoms of the Vici syndrome.
This disease is inherited with an autosomal recessive pattern, which means that both copies of the gene in each cell must have the mutations for the alteration to be expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually do not show signs and symptoms of the disease.
Tests performed in IVAMI: in IVAMI we perform the detection of mutations associated with Vici syndrome, by means of the complete PCR amplification of the exons of the EPG5 gene, and their subsequent sequencing.
Recommended samples: blood drawn with EDTA for separation of blood leukocytes, or card impregnated with dried blood sample (IVAMI can mail the card to deposit the blood sample).