Cerebrotendinous xanthomatosis

People affected by cerebrotendinous xanthomatosis (CTX) have difficulty breaking down cholesterol. This causes fats to build up in many parts of the body including the brain, tendons, and the lens of the eye.

Symptoms of CTX often appear in infancy, with babies experiencing chronic diarrhea. As people age they can develop eye cataracts in childhood, development of xanthomas (fatty yellow nodules) in tendons during the teens or in early adulthood, and neurologic problems as adults. Neurologic symptoms may include dementia, intellectual impairment, seizures, difficulty coordinating movements (ataxia), and depression. The severity of CTX varies widely among affected individuals. With treatment, the symptoms may improve or stop getting worse, and patients may have a normal life span.

Quick facts about cerebrotendinous xanthomatosis
Genes: CYP27A1
Inheritance: Autosomal Recessive
Relevant resources for cerebrotendinous xanthomatosis

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is cerebrotendinous xanthomatosis inherited?

cerebrotendinous xanthomatosis is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.

If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.

If both parents are carriers of cerebrotendinous xanthomatosis, there’s a one in four chance that their children could develop symptoms.
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What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes cerebrotendinous xanthomatosis, but there's a total 301 conditions that can be tested.

Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for cerebrotendinous xanthomatosis before or early in pregnancy?

The biggest benefit of screening for cerebrotendinous xanthomatosis is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

Since 90% of children that have a recessive genetic disease like cerebrotendinous xanthomatosis had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.

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