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1 Cystic fibrosis primarily affects the lungs and digestive system. 2  It leads to the production of mucus that is much thicker and more sticky than usual. 3  Cystic fibrosis is a hereditary condition, caused by a defective gene. 4  The cystic fibrosis gene must be present in both parents for a child to have the condition.
CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, Î´F508, is a deletion (Î´ signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein.ifferent people may have different degrees of symptoms. CF is an autosomal recessive disorder. It is caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). Those with a single working copy are carriers and otherwise mostly normal.