In the last two decades, remarkable progress has been made in our understanding of the etiology, pathogenesis, and basic molecular processes that result in disease. Cystic fibrosis is the most common lethal gene in our population, occurring in the carrier state in one person of every 20 to 25, and resulting in one in 2500 births of a child with the disease. The defect has now been clearly identified as a mutation of a specific gene, the cystic fibrosis transmembrane regulator (CFTR) gene, on chromosome 7.1 The most common mutation results in a protein defective in phenylalanine at position 508, referred to as ΔF508; in addition, more than 120 other mutations have been identified. Variance in the mutation does result in some phenotypic variation, but concordance for ΔF508 leads to both pancreatic deficiency and pulmonary disease.
The CFTR defect leads to altered transport of sodium and chloride through the
Fulginiti VA, Lewy JE. Pediatrics. JAMA. 1993;270(2):246–248. doi:10.1001/jama.1993.03510020114040
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