Dyskeratosis congenita spectrum disorders (RTEL1-related)

Dyskeratosis congenita (DC) is a variable condition that can be caused by several genes, one of which is RTEL-1.

Signs of DC include changes in skin colouring, nail damage or poor growth, and a white patches in the mouth called leukoplakia. People with DC may also develop bone marrow failure, a serious lung disease called pulmonary fibrosis, and certain cancers. Some individuals experience a more severe form of DC known as Hoyeraal-Hreidarsson syndrome (HHS), which can affect motor skill development. Because DC is variable, treatment is focused on managing an individual's symptoms.

Typically, DC is inherited in an autosomal recessive fashion; though there is some evidence that carriers of RTEL-1 may have a higher risk of pulmonary fibrosis than the general population. However, the absolute risk of pulmonary fibrosis remains low.

Quick facts about Dyskeratosis congenita spectrum disorders (RTEL1-related)
Genes: RTEL1
Inheritance: Autosomal Recessive
Relevant resources for Dyskeratosis congenita spectrum disorders (RTEL1-related)

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 Dyskeratosis congenita spectrum disorders (RTEL1-related) inherited?

Dyskeratosis congenita spectrum disorders (RTEL1-related) 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 Dyskeratosis congenita spectrum disorders (RTEL1-related), 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 Dyskeratosis congenita spectrum disorders (RTEL1-related), 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 Dyskeratosis congenita spectrum disorders (RTEL1-related) before or early in pregnancy?

The biggest benefit of screening for Dyskeratosis congenita spectrum disorders (RTEL1-related) 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 Dyskeratosis congenita spectrum disorders (RTEL1-related) 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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