title: Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.
abstract: Cystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant DeltaF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.
authors.affiliation: Department of Pediatrics, Institute for the Health of Women and Children, Göteborg University, Göteborg, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Strandvik
authors.forename: E
authors.initials: E
authors.lastname: Björck
authors.forename: M
authors.initials: M
authors.lastname: Fallström
authors.forename: E
authors.initials: E
authors.lastname: Gronowitz
authors.forename: J
authors.initials: J
authors.lastname: Thountzouris
authors.forename: A
authors.initials: A
authors.lastname: Lindblad
authors.forename: D
authors.initials: D
authors.lastname: Markiewicz
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
mesh_terms: D000328:Adult; D002675:Child, Preschool; D018389:Codon, Nonsense; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D007223:Infant; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D013548:Sweden
chemical_list: C505032:CFTR protein, human; D018389:Codon, Nonsense; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA