CLN5 disease is a neurological disorder characterized by seizures, vision loss, and intellectual disability. It is caused by impaired function of the ceroid-lipofuscinosis neuronal protein 5 (CLN5 protein), which is thought to play a role in the breakdown of proteins within the lysosomes, sac-like structures within cells.
CLN5 disease belongs to the neuronal ceroid lipofuscinosis (NCL) family of inherited genetic diseases that affects the nervous system. NCLs are caused by the buildup of the lipofuscin pigment.
Take this test to find out if you are a genetic carrier of a CLN5 variant and are at risk of passing it to your children.
CLN5 disease is caused by genetic variation in the CLN5 gene. This gene gives instructions for the ceroid-lipofuscinosis neuronal protein 5 (CLN5 protein). This protein is thought to play a role in the breakdown of damaged or unneeded proteins within the lysosomes of cells. Affected people produce a CLN5 protein that is structurally altered; hence is unable to enter the lysosomes where it usually functions. The lack of a functional CLN5 protein in the lysosomes is thought to result in a harmful accumulation of specific proteins.
CLN5 disease is inherited in an autosomal recessive pattern, which means two defective copies of the CLN5 gene must be inherited for symptoms to manifest.
This test detects a variant of the CLN5 gene which causes CLN5 disease. This variant occurs in 94% of all Finnish cases and carriers of CLN5 disease.
- rs386833969 (Y392X)
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
Affected infants are normal at birth and develop normally until symptoms appear anytime between childhood and early adulthood (typically around five years of age).
- Developmental regression
- Muscle twitches/spasms
- Vision loss
- Decline in intellectual function
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.