Genotype-phenotype relationships in cystic fibrosis

Despite being a monogenic disorder, the genotype-phenotype relationship in CF is complex; however, certain conclusions can be derived from studying this relationship. Mutations in both CFTR alleles cause the CF phenotype. Genotype correlates more closely with certain features of the CF phenotype than others. Molecular analyses of disease-associated mutations provide a mechanistic framework for genotype-based therapy and pharmacologic intervention.