Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.
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.
Schaedel
C
C
Department of Paediatrics, University Hospital, Lund, Sweden.
Andersson
A M
AM
Kristoffersson
A C
AC
Kornfält
R
R
Lannefors
L
L
Holmberg
L
L
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
C505032:CFTR protein, human; D007532:Isoleucine; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D013912:Threonine; D012694:Serine