title: Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.
abstract: In this study of cystic fibrosis (CF) gene mutations in Southern Sweden we found missense mutations in 12 out of 110 patients. These patients, as a group, differed from deltaF508 homozygotes by a higher frequency of pancreatic sufficiency and an older age at diagnosis as has been indicated in previous studies. In addition, lung function (vital capacity (VC) and forced expiratory volume in 1 s (FEV1)) tended to be better although the difference did not reach statistical significance (p = 0.13 for FEV1). For two mutations, S549I and T338I, our results differed from earlier reports. In our experience, S549I confers a milder phenotype and T338I a more severe one than previously reported. We conclude that each mutation should be treated separately when trying to correlate genotype with phenotype.
authors.affiliation: Department of Paediatrics, University Hospital, Lund, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Schaedel
authors.forename: A M
authors.initials: AM
authors.lastname: Andersson
authors.forename: A C
authors.initials: AC
authors.lastname: Kristoffersson
authors.forename: R
authors.initials: R
authors.lastname: Kornfält
authors.forename: L
authors.initials: L
authors.lastname: Lannefors
authors.forename: L
authors.initials: L
authors.lastname: Holmberg
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005541:Forced Expiratory Volume / Q000502:physiology; D005838:Genotype; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000235:genetics; D008168:Lung / Q000382:microbiology / Q000473:pathology / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics; D010179:Pancreas / Q000382:microbiology / Q000473:pathology; D011110:Polymorphism, Genetic; D011550:Pseudomonas aeruginosa / Q000254:growth & development; D012694:Serine / Q000235:genetics; D013548:Sweden / Q000453:epidemiology; D013912:Threonine / Q000235:genetics; D014797:Vital Capacity / Q000502:physiology
chemical_list: C505032:CFTR protein, human; D007532:Isoleucine; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D013912:Threonine; D012694:Serine