In human genetics, which disorder is caused by mutations in the CFTR gene?

Mutations in the CFTR gene cause cystic fibrosis, an inherited disorder affecting salt and water movement across cell membranes.

CFTR provides instructions for a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as an ion channel, especially in epithelial cells lining organs such as the lungs, pancreas, intestines and reproductive tract. Faulty CFTR disrupts chloride and water transport, producing unusually thick, sticky mucus.

Cystic fibrosis is usually inherited in an autosomal recessive pattern. A person generally must inherit a disease-causing CFTR variant from both parents to develop the condition. Carriers typically have one altered copy and one working copy, and usually do not have cystic fibrosis symptoms.

The disease is commonly associated with persistent lung infections, difficulty digesting food and salty sweat. The most common CFTR variant is F508del, which removes phenylalanine at position 508, although hundreds of other variants are known. Treatments now include CFTR modulators for people with specific variants.