CLINICAL IMPLICATIONS OF CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATIONS

Cystic fibrosis (CF) phenotypes are determined by mutations in the CF gene, genetic background, and environment. The nature of the cystic fi brosis transmembrane conductance regulator (CFTR) mutation determines the extent of protein function. CFTR mutations that abolish protein fu nction are associated with severe CF phenotypes. Mutants that retain p artial function of CFTR are associated with mild phenotypes. The effec t of CFTR dysfunction is variable in different tissues. Atypical pheno types caused by mutations in the CF gene may be revealed by CFTR mutat ion analysis and family studies. These phenotypes help to define the s pectrum of clinical manifestations caused by CFTR mutations.