Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

Journal of Medical Genetics
Frauke StankeBurkhard Tümmler

Abstract

Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases. 17 individuals who are homozygous for deletions, missense, stop or splice site mutations in the CFTR gene were investigated for clinical symptoms of CF and assessed in CFTR function by sweat test, nasal potential difference and intestinal current measurement. CFTR activity in sweat gland, upper airways and distal intestine was normal for homozygous carriers of G314E or L997F and in the range of F508del homozygotes for homozygous carriers of E92K, W1098L, R553X, R1162X, CFTRdele2(ins186) or CFTRdele2,3(21 kb). Homozygotes for M1101K, 1898+3 A-G or 3849+10 kb C-T were not consistent CF or non-CF in the three bioassays. 14 individuals exhibited some chloride conductance in the airways and/or in the intestine which was identified by the differential response to cAMP and DIDS as being caused by CFTR or at least two other chloride conductances. CFTR mutations may lead to unusual electrophysiological or clinical manifestations. In vivo and ex vivo functional assessment of CFTR function and in-depth clinical examination of the index cases are indicated to classify yet u...Continue Reading

Citations

Feb 17, 2015·Journal of Advanced Research·Mona M El-FalakiMona M El-Attar
Jun 18, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·K De BoeckUNKNOWN EuroCareCF WP3 Group on CF diagnosis
Jun 17, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·C BombieriC Ferec
Jun 17, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Martina WilkeBob J Scholte
Nov 17, 2015·American Journal of Respiratory and Critical Care Medicine·Simon Y GraeberMarcus A Mall
Aug 11, 2010·Biochimica Et Biophysica Acta·Andrea van BarneveldBurkhard Tümmler
Jan 13, 2018·American Journal of Respiratory and Critical Care Medicine·Simon Y GraeberBurkhard Tümmler
Jan 3, 2019·Molecular Genetics & Genomic Medicine·Sylvia SchuchtBurkhard Tümmler
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Dec 10, 2017·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Julia C EspelManu Jain

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