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 optic nerve. This test detects an LRPPRC variant which causes the French Canadian type of Leigh syndrome.
The LRPPRC (leucine-rich pentatricopeptide repeat-containing) protein plays a role in energy production in the mitochondria, the powerhouses of our cells. People with the French Canadian type of Leigh syndrome produce an LRPPRC protein with reduced function, which inhibits the amount of energy generated by the mitochondria. Some tissues, like the brain, that rely on large amounts of energy 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 energy.
Take this test to find out if you are a genetic carrier of the LRPPRC A354V variant and are at risk of passing it to your children.
The French Canadian type of Leigh syndrome is caused by genetic variation in the LRPPRC gene. Affected individuals are unable to produce sufficient energy in their cells.
Leigh syndrome is inherited in an autosomal recessive pattern, which means that two defective copies of the LRPPRC gene must be inherited in order for the disease to manifest.
This test detects the rs119466000 A (A354V) variant in the LRPPRC gene which occurs in more than 99% of cases and carriers of the French Canadian type of Leigh syndrome.
Understanding your carrier status will help you understand the risk of passing this variant to your children.
Prenatal genetic analyses and diagnosis are also available for parents who are carriers of this variant.
Symptoms of the neonatal form appear in early infancy and 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
Symptoms of the classic form appear between 14 and 24 months and include:
- Lactic acidosis
- Ataxia of gait
- Breathing difficulties
- Vision problems
- Heart problems
The “survivor” form describes affected people who have survived several episodes of lactic acidosis and now have less severe symptoms, including:
- Low muscle tone
- Developmental delays
- Lack of energy
- Characteristic wide-based gait
- Partial paralysis
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Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.