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• W2067432020 abstract "BackgroundR117H is a frequent missense mutation included in most CFTR mutation panels. However knowledge about the residual function of R117H-CFTR channels in cystic fibrosis-affected organs, e.g. airways, intestines and sweat glands is presently lacking.MethodsWe evaluated clinical CF symptoms and assessed CFTR function by sweat tests, nasal potential difference and intestinal current measurements in 2 homozygous R117H individuals (7T variant).ResultsThe CFTR activity in airways and intestine was within the normal range. However both individuals presented with a borderline sweat test and the male patient was infertile.ConclusionsThe lack of impact of the R117H mutation on chloride secretion in intestine and nose contrasts with the ~80% loss of CFTR activity reported in patch clamp studies. Apparently CFTR activity is not rate-limiting for chloride secretion in both tissues at levels >20% of normal, or compensatory factors may operate that are absent in heterologous host cells in vitro." @default.
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• W2067432020 date "2011-09-01" @default.
• W2067432020 modified "2023-10-12" @default.
• W2067432020 title "Assessment of CFTR function in homozygous R117H-7T subjects" @default.
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• W2067432020 doi "https://doi.org/10.1016/j.jcf.2011.03.009" @default.
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