Vici Syndrome
Description
Vici syndrome is a rare, complex genetic disorder characterized by severe developmental delays, intellectual disability, and distinctive physical features. It typically presents at birth or shortly after, with a wide range of symptoms affecting various body systems. Understanding Vici syndrome is crucial for early diagnosis, intervention, and supportive care to improve quality of life for individuals affected by this condition.
Genes Involved
Genes Involved in Vici Syndrome:
Vici syndrome is caused by mutations in genes involved in the synthesis of Coenzyme Q10 (CoQ10), an essential molecule for cellular energy production. The specific genes associated with Vici syndrome include:
- COQ2: A gene responsible for producing an enzyme crucial for CoQ10 biosynthesis.
- COQ4: Another gene involved in CoQ10 biosynthesis.
- COQ6: A gene that plays a role in the production of a key protein for CoQ10 synthesis.
- COQ7: A gene encoding a vital enzyme for CoQ10 production.
- COQ9: A gene that contributes to the assembly of CoQ10 molecules.
- PDSS2: A gene involved in the production of an essential precursor for CoQ10 synthesis.
Mutations in these genes disrupt the production of CoQ10, leading to energy deficiency in cells and the development of Vici syndrome.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Vici Syndrome:
- Severe developmental delays: Significant delays in physical, cognitive, and social development.
- Intellectual disability: Varying degrees of intellectual impairment.
- Distinctive facial features: Prominent forehead, wide-set eyes, small chin, and low-set ears.
- Feeding difficulties: Problems with swallowing, sucking, and gaining weight.
- Microcephaly: Smaller than average head size.
- Hypotonia: Decreased muscle tone.
- Seizures: Episodes of uncontrolled electrical activity in the brain.
- Skeletal abnormalities: Deformed bones or joint problems.
- Congenital heart defects: Abnormalities in the heart‘s structure.
- Kidney dysfunction: Impaired kidney function.
- Other: Eye abnormalities, hearing loss, and respiratory problems.
While not every individual with Vici syndrome exhibits all these symptoms, the presence of several suggests the need for further evaluation.
Causes
Causes of Vici Syndrome:
Vici syndrome is a genetic disorder caused by mutations in genes involved in CoQ10 synthesis. These mutations are inherited from parents, usually in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance for each pregnancy that their child will inherit Vici syndrome.
In some cases, Vici syndrome can occur due to spontaneous mutations, meaning the mutation occurs during the formation of the egg or sperm, and is not inherited from the parents.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
Vici syndrome is typically inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance for each pregnancy that their child will inherit Vici syndrome.
If one parent has Vici syndrome, there is a 50% chance for each pregnancy that their child will inherit the condition. However, it‘s important to note that the severity of symptoms can vary even among siblings with Vici syndrome.
The recurrence risk for families with a child affected by Vici syndrome depends on the inheritance pattern and the specific genetic mutation involved. Genetic counseling can provide personalized guidance and estimates of recurrence risk.
