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.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Cystic FibrosisCFTR1-9, 11-27 [27] (*577)ARCaucasian1 in 2594%0.00249376558603491
Cystic FibrosisCFTR1-9, 11-27 [27] (*577)ARAfrican American1 in 6187%0.00215982721382289
Cystic FibrosisCFTR1-9, 11-27 [27] (*577)ARHispanic1 in 5887%0.00227790432801822
Cystic FibrosisCFTR1-9, 11-27 [27] (*577)ARAsian1 in 9465%0.00374531835205993
Cystic FibrosisCFTR1-9, 11-27 [27] (*577)ARAshkenazi Jewish1 in 24>95%0.00216919739696312
Cystic FibrosisCFTR1-9, 11-27 [27] (*577)ARWorldwide1 in 4586%0.00317460317460317