Cystic Fibrosis: S158N (605G → A) Is a Rare Genetic Variant Found in Coupling with ΔF508

摘要

A single nucleotide change at codon 158 in exon 4 of the CFTR gene ABCC7 was detected in an asymptomatic individual who carried ΔF508 and had a family history of cystic fibrosis (CF). Further study, using linkage, revealed that S158N was coupled with ΔF508, both having been inherited from the same parent. The clinical implications of double mutations in the same allele are discussed.