delta f508 mutation

[unicornbluehaze]

My daughter has recently been diagnosed with cystic fibrosis.  Her genetic testing came back and it shows that she has delta f508 mutation.  I was wondering how severe the lung disease is in patients with this mutations.  

[Jordanna Joaquina, MS, CGC]

As you already know, cystic fibrosis (CF) is an autosomal recessive condition, as it is generally necessary to have two mutations, one in each gene copy, to be affected. We do not quite understand from the information you provided if your daughter has two copies of the deltaF508 mutation (the most common mutation in Caucasians) or one copy of the deltaF508mutation in conjuntion with an additional CF mutation.

CF causes mucus to be thick and sticky, which in turn gets stuck and causes obstructions in the affected organs and tissues. Some of the major affected organs are the lungs, pancreas, and sex organs. In the lungs, this mucus makes it easy for bacteria to grow causing recurrent lung infections and tissue damage including the formation of scar tissue (called fibrosis) and cysts.

The symptoms and severity of CF vary widely even among affected members of the same family and people with identical mutations. This may be due in part to additional genetic modifiers and/or environmental factors. We recommend that you and your daughter meet with a medical geneticist, who can review the test results, the family history and discuss the natural history of CF. You can find a medical geneticist at the American College of Medical Genetics website. Cystic fibrosis care centers can be found at the Cystic Fibrosis Foundation website. We wish you and your family the best.