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Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I
Author(s) -
Schaedel C.,
Andersson AM,
Kristoffersson AC,
Kornfält R.,
Lannefors L.,
Holmberg L.
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02750.x
Subject(s) - cystic fibrosis , missense mutation , phenotype , genotype , lung function , mutation , medicine , genetics , pancreatic disease , pulmonary function testing , genotype phenotype distinction , fibrosis , gastroenterology , gene , pathology , lung , biology , pancreas
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 ΔF508 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 (FEV 1 )) tended to be better although the difference did not reach statistical significance (p = 0.13 for FEV 1 ). 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.