Etiology

• CF is a hereditary autosomal recessive disorder caused by defective CFTR (cystic fibrosis transmembrane conductance regulator) protein due to mutation in the CFTR gene located on the long arm of chromosome 7. [5]

• The most common mutation causing CF is delta F508 (ΔF508), a codon deletion that leads to the absence of phenylalanine (F) in position 508 of the CFTR protein.

Children whose parents are both heterozygous carriers of cystic fibrosis have a 25% chance of being affected by the condition.

• Second most common genetic metabolic disorder after hemochromatosis in individuals of Northern European descent

• Incidence: approx. 1:3500 in the US