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PCDH15-related conditions including Usher syndrome type 1F

Usher syndrome type 1F affects hearing and vision. Most people are born with severe or profound hearing loss. Inner ear problems can also cause issues with balance, which can lead to a delay in sitting and walking in infants.

The vision loss experienced by individuals affected with Usher syndrome type 1F is progressive and usually begins in childhood. This condition is known as retinitis pigmentosa (RP).

Sometimes, individuals experience profound hearing loss without balance trouble or vision loss. This is known as non-syndromic hearing loss or DFNB23.

Quick facts about PCDH15-related conditions including Usher syndrome type 1F
Genes: PCDH15
Inheritance: Autosomal Recessive
Relevant resources for PCDH15-related conditions including Usher syndrome type 1F

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 PCDH15-related conditions including Usher syndrome type 1F inherited?

PCDH15-related conditions including Usher syndrome type 1F 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 condition.

If both parents are carriers of PCDH15-related conditions including Usher syndrome type 1F, there's a one in four chance that their children could develop symptoms.

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 condition in your child. Eugene offers an inclusive genetic carrier screening panel that includes PCDH15-related conditions including Usher syndrome type 1F, 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 PCDH15-related conditions including Usher syndrome type 1F before or early in pregnancy?

The biggest benefit of screening for PCDH15-related conditions including Usher syndrome type 1F 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 condition is low.

Since 90% of children that have a recessive genetic condition like PCDH15-related conditions including Usher syndrome type 1F 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 condition in the first place.