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18 January 2016
Article (Scientific journals)
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Mansour-Hendili, Lamisse; Blanchard, Anne; Le Pottier, Nelly et al.
2015 • In Human Mutation, 36 (8), p. 743-52
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Keywords :
CLCN5; ClC-5; Dent disease 1; low molecular weight proteinuria; renal failure
Abstract :
[en] Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It often progresses over a few decades to chronic renal insufficiency, and therefore molecular characterization is important to allow appropriate genetic counseling. Two genetic subtypes have been described to date: Dent disease 1 is caused by mutations of the CLCN5 gene, coding for the chloride/proton exchanger ClC-5; and Dent disease 2 by mutations of the OCRL gene, coding for the inositol polyphosphate 5-phosphatase OCRL-1. Herein, we review previously reported mutations (n = 192) and their associated phenotype in 377 male patients with Dent disease 1 and describe phenotype and novel (n = 42) and recurrent mutations (n = 24) in a large cohort of 117 Dent disease 1 patients belonging to 90 families. The novel missense and in-frame mutations described were mapped onto a three-dimensional homology model of the ClC-5 protein. This analysis suggests that these mutations affect the dimerization process, helix stability, or transport. The phenotype of our cohort patients supports and extends the phenotype that has been reported in smaller studies.
Disciplines :
Genetics & genetic processes
Author, co-author :
Mansour-Hendili, Lamisse
Blanchard, Anne
Le Pottier, Nelly
Roncelin, Isabelle
Lourdel, Stephane
Treard, Cyrielle
Gonzalez, Wendy
Vergara-Jaque, Ariela
Morin, Gilles
Colin, Estelle
Holder-Espinasse, Muriel
Bacchetta, Justine
Baudouin, Veronique
Benoit, Stephane
Berard, Etienne
Bourdat-Michel, Guylhene
Bouchireb, Karim
Burtey, Stephane
Cailliez, Mathilde
Cardon, Gerard
Cartery, Claire
Champion, Gerard
Chauveau, Dominique
Cochat, Pierre
Dahan, Karin
De la Faille, Renaud
DEBRAY, François-Guillaume ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Dehoux, Laurenne
Deschenes, Georges
Desport, Estelle
Devuyst, Olivier
Dieguez, Stella
Emma, Francesco
Fischbach, Michel
Fouque, Denis
Fourcade, Jacques
Francois, Helene
Gilbert-Dussardier, Brigitte
Hannedouche, Thierry
Houillier, Pascal
Izzedine, Hassan
Janner, Marco
Karras, Alexandre
Knebelmann, Bertrand
Lavocat, Marie-Pierre
Lemoine, Sandrine
Leroy, Valerie
Loirat, Chantal
Macher, Marie-Alice
Martin-Coignard, Dominique
Morin, Denis
Niaudet, Patrick
Nivet, Hubert
Nobili, Francois
Novo, Robert
Faivre, Laurence
Rigothier, Claire
Roussey-Kesler, Gwenaelle
Salomon, Remi
Schleich, Andreas
Sellier-Leclerc, Anne-Laure
Soulami, Kenza
Tiple, Aurelien
Ulinski, Tim
Vanhille, Philippe
Van Regemorter, Nicole
Jeunemaitre, Xavier
Vargas-Poussou, Rosa
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Title :
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Publication date :
Journal title :
Human Mutation
Publisher :
John Wiley & Sons, Hoboken, United States - New Jersey
Volume :
Issue :
Pages :
Peer reviewed :
Peer Reviewed verified by ORBi
Commentary :


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