Simply CF : 1,800

It takes two copies of the defective CFTR gene to cause cystic fibrosis, as we talked about in the Simply CF: A Common Carrier. But did you know that the two mutations that cause CF do not have to be the same? There are over 1,800 different mutations that cause CF! Some mutations are more common than others. For example, the mutation known as Delta f508 is present in over 70% of the CF population while the remaining 30% are made up of rare or nonsense mutations.

 

So it would be easy to think that those with the same mutations of CF would have the same symptoms and complications, right? Actually, that isn’t so. Individuals with the same mutations may not experience the same symptoms or complications. Each mutation and combination of mutations manifests differently in each unique individual with CF and does not define the severity of the disease.


A person with CF is only 1 of 70,000 people in the world, and with 1,800 different mutations that cause the disease that makes each person with CF even more unique! 
 

 

 


Source: Cystic Fibrosis Foundation & John Hopkins CF Center

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