Sjögren-Larsson syndrome (SLS) is an inherited metabolic disease characterized by dry, scaly skin (ichthyosis), neurological issues, and eye problems. It mostly affects people of Swedish descent. SLS is caused by genetic variation in the ALDH3A2 gene, which inhibits the function of the fatty aldehyde dehydrogenase (FALDH) enzyme.
The FALDH enzyme is involved in a multistep process called fatty acid oxidation, necessary for breaking down fats (from the diet or from fat stores), so they can be converted into energy. FALDH converts fatty aldehydes to fatty acids. People affected by SLS make a non-functional FALDH enzyme, and are unable to properly break down fatty aldehydes. The buildup of fatty aldehydes within cells lead to the characteristic symptoms of SLS.
Take this test to find out if you are a genetic carrier of an ALDH3A2 variant and are at risk of passing it to your children.
SLS is caused by genetic variation in the ALDH3A2 gene. This gene gives instructions to produce the fatty aldehyde dehydrogenase (FALDH) enzyme. Affected people produce a defective FALDH enzyme, leading to the buildup of fatty aldehydes.
SLS is inherited in an autosomal recessive pattern, which means two defective copies of the ALDH3A2 gene must be inherited in order for the disease to manifest.
This test detects the most common variant in ALDH3A2 which causes Sjögren-Larsson Syndrome.
- rs72547571 T (P315S)
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
Signs and symptoms usually seen in affected infants and children:
- Dry, scaly skin (ichthyosis)
- Chronic muscle stiffness and involuntary muscle spasms (spasticity) leading to delayed development of motor skills (e.g. crawling and walking)
- Intellectual disability varying from mild to profound
- Seizures (in approximately 40%)
- Speech difficulty (dysarthria)
- Pruritis (itching)
- Tiny crystals in the light-sensitive tissue at back of the eye
How It Works
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.