Leigh syndrome is a rare inherited neurological condition that becomes apparent shortly after birth. It is characterized by the degeneration of the central nervous system, including the brain, spinal cord and the optic nerve. This test looks at the French Canadian version of Leigh syndrome caused by a genetic variant of the LRPPRC gene.
The LRPPRC (leucine-rich pentatricopeptide repeat-containing) protein plays a role in energy production in the mitochondria, the powerhouses in our cells. People with French Canadian form of Leigh syndrome produce a protein with reduced function, which in turn influences the amount of energy generated by the mitochondria. Some tissues like the brain rely on large amounts of energy and are particularly affected by this decrease in energy production. It is likely the features of Leigh syndrome are the result of cell death caused by the lack of sufficient amounts of energy.
Take this test to find out whether you are a genetic carrier of the LRPPRC A354V variant and are at risk of passing it to your children. This is intended to be a carrier screening test for couples who are considering to start a family.
Leigh syndrome is caused by genetic variation in the LRPPRC gene. People with the genetic variant of LRPPRC are unable to produce sufficient amounts of energy in their cells.
More than 99% of the cases of French Canadian form of Leigh syndrome is caused by the presence of two defective copies of the LRPPRC gene. This means the gene is inherited in an autosomal recessive pattern where two defective copies must be inherited in order for the disease to manifest.
This test looks at a genetic variants of LRPPRC gene linked to the French Canadian form of Leigh syndrome.
Understanding your carrier status will help you understand the risk of passing it to your children. While a carrier do not typically show signs and symptoms of the condition there is a 25% chance the child will inherit the disease if both parents are carriers.
The A354V variant is linked to >99% of diagnosed cases of French Canadian form of Leigh syndrome. Prenatal diagnosis is also available for parents who are carriers for this variation. Additional genetic variants are linked to other forms of Leigh syndrome.
Characteristic symptoms include
- Chronic lactic acidosis
- Difficulty swallowing
- Failure to thrive
- Delayed achievement of developmental milestones
- Distinct facial features including prominent forehead, wide nasal bridge, broad anterior fontanelle and arched eyebrows
How It Works
Step 1: Sign up for a free Genebase account.
Step 2: Upload your DNA markers to Genebase.
Step 3: Login to your account to access your results when they are ready.