Dystrophic epidermolysis bullosa (COL7A1-related)

Epidermolysis bullosa (EB) is a group of disorders that affect the way collagen is made — the protein that gives skin its strength and holds it together. People affected by EB have extremely fragile skin that blisters easily.

Dystrophic epidermolysis bullosa (DEB) is one form of this condition. The autosomal recessive form of the disease is typically the most severe form: Infants are born with missing skin and with blisters over the entire body. Blisters in the mouth and digestive tract make feeding difficult, which leads to chronic malnutrition and slow growth. As the blisters heal, scarring may lead to disfigurement and a variety of serious medical issues. Young adults are also at risk for an aggressive form of skin cancer called squamous cell carcinoma. Severe DEB can be life-threatening. Unfortunately, there is no cure and the treatment is focused on managing the person's symptoms.

Quick facts about dystrophic epidermolysis bullosa (COL7A1-related)
Genes: COL7A1
Inheritance: Autosomal Recessive
Alternative Names: DEB, Dystrophic epidermolysis bullosa
Relevant resources for dystrophic epidermolysis bullosa (COL7A1-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 dystrophic epidermolysis bullosa (COL7A1-related) inherited?

dystrophic epidermolysis bullosa (COL7A1-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 dystrophic epidermolysis bullosa (COL7A1-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 dystrophic epidermolysis bullosa (COL7A1-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 dystrophic epidermolysis bullosa (COL7A1-related) before or early in pregnancy?

The biggest benefit of screening for dystrophic epidermolysis bullosa (COL7A1-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 dystrophic epidermolysis bullosa (COL7A1-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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