Cystic Fibrosis (CFTR)
Cystic fibrosis is an autosomal recessive disorder caused by pathogenic variants in the gene CFTR. It may be diagnosed in individuals worldwide, but has the highest prevalence in the Caucasian population, in individuals with Northern European ancestry. The clinical presentation includes thick mucus accumulation in the lungs leading to breathing difficulties and infection, poor digestion, and male infertility. The average life expectancy is in the 30s. Although some genotype/phenotype correlations exist, individuals with two classic pathogenic variants in CFTR are expected to present with a more severe disease phenotype. Non-classic variants in CFTR may lead to less severe forms of disease or specific phenotypes, such as male infertility as a result of congenital absence or hypoplasia of the vas deferens.
For information about carrier frequency and residual risk, please see the residual risk table.