Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Issue 8 (11th June 2015)

• Record Type: Journal Article
• Authors: Mansour‐Hendili, Lamisse; Blanchard, Anne; Le Pottier, Nelly; Roncelin, Isabelle; Lourdel, Stéphane; Treard, Cyrielle; González, Wendy; Vergara‐Jaque, Ariela; Morin, Gilles; Colin, Estelle; Holder‐Espinasse, Muriel; Bacchetta, Justine; Baudouin, Véronique; Benoit, Stéphane; Bérard, Etienne; Bourdat‐Michel, Guylhène; Bouchireb, Karim; Burtey, Stéphane; Cailliez, Mathilde; Cardon, Gérard; Cartery, Claire; Champion, Gerard; Chauveau, Dominique; Cochat, Pierre; Dahan, Karin; De la Faille, Renaud; Debray, François‐Guillaume; Dehoux, Laurenne; Deschenes, Georges; Desport, Estelle; Devuyst, Olivier; Dieguez, Stella; Emma, Francesco; Fischbach, Michel; Fouque, Denis; Fourcade, Jacques; François, Hélène; Gilbert‐Dussardier, Brigitte; Hannedouche, Thierry; Houillier, Pascal; Izzedine, Hassan; Janner, Marco; Karras, Alexandre; Knebelmann, Bertrand; Lavocat, Marie‐Pierre; Lemoine, Sandrine; Leroy, Valérie; Loirat, Chantal; Macher, Marie‐Alice; Martin‐Coignard, Dominique; Morin, Denis; Niaudet, Patrick; Nivet, Hubert; Nobili, François; Novo, Robert; Faivre, Laurence; Rigothier, Claire; Roussey‐Kesler, Gwenaëlle; Salomon, Remi; Schleich, Andreas; Sellier‐Leclerc, Anne‐Laure; Soulami, Kenza; Tiple, Aurélien; Ulinski, Tim; Vanhille, Philippe; Van Regemorter, Nicole; Jeunemaître, Xavier; Vargas‐Poussou, Rosa;
• Is Part Of: Human mutation. Volume 36:Issue 8(2015:Aug.)
• Page Start: 743
• Page End: 752
• Publication Date: 2015-06-11
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22804
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22804-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We review previously reported mutations in the <italic>CLCN5</italic> gene (Dent disease 1) and describe phenotype, novel (n=42) and recurrent mutations (n=24) in a large cohort of 117 patients belonging to 90 families. The novel missense and in‐frame mutations 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 previously reported in smaller studies. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj296tvvkb" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>