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Title: Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease
Authors: Azad, Abul Kalam ×
Rauh, Robert
Vermeulen, Fran├žois
Jaspers, Martine
Korbmacher, Judit
Boissier, Brigitte
Bassinet, Laurence
Fichou, Yann
des Georges, Marie
Stanke, Frauke
De Boeck, Christiane
Dupont, Lieven
Balascáková, Miroslava
Hjelte, Lena
Lebecque, Patrick
Radojkovic, Dragica
Castellani, Carlo
Schwartz, Marianne
Stuhrmann, Manfred
Schwarz, Martin
Skalicka, Veronika
de Monestrol, Isabelle
Girodon, Emmanuelle
Férec, Claude
Claustres, Mireille
Tümmler, Burkhard
Cassiman, Jean-Jacques
Korbmacher, Christoph
Cuppens, Harry #
Issue Date: Jul-2009
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:30 issue:7 pages:1093-103
Abstract: We investigated whether mutations in the genes that code for the different subunits of the amiloride-sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)-like disease. In a small fraction of the patients, the disease could be potentially explained by an ENaC mutation by a Mendelian mechanism, such as p.V114I and p.F61L in SCNN1A. More importantly, a more than three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patient group (30% vs. 9% in controls), indicating an involvement of ENaC in some patients by a polygenetic mechanism. Specifically, a significantly higher number of patients carried c.-55+5G > C or p.W493R in SCNN1A in the heterozygous state, with odds ratios (ORs) of 13.5 and 2.7, respectively. The p.W493R-SCNN1A polymorphism was even found to result in a four-fold more active ENaC channel when heterologously expressed in Xenopus laevis oocytes. About I in 975 individuals in the general population will be heterozygous for the hyperactive p.W493R-SCNN1A mutation and a cystic fibrosis transmembrane conductance regulator (CFTR) gene that results in very low amounts (0-10%) functional CFTR. These ENaC/CFTR genotypes may play a hitherto unrecognized role in lung diseases. Hum Mutat 30:1093-1103, 2009. (C) 2009 Wiley-Liss, Inc.
URI: 
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Department of Human Genetics - miscellaneous
Forensic Biomedical Sciences
Pneumology
Pediatric Pulmonology Section (-)
Organ Systems (+)
× corresponding author
# (joint) last author

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