Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Lamisse Mansour-Hendili; Anne Blanchard; Nelly Le Pottier; Isabelle Roncelin; Stephane Lourdel; Cyrielle Treard; Wendy Gonzalez; Ariela Vergara-Jaque; Gilles Morin; Estelle Colin; Muriel Holder-Espinasse; Justine Bacchetta; Veronique Baudouin; Stephane Benoit; Etienne Berard; Guylhene Bourdat-Michel; Karim Bouchireb; Stephane Burtey; Mathilde Cailliez; Gerard Cardon; Claire Cartery; Gerard Champion; Dominique Chauveau; Pierre Cochat; Karin Dahan; Renaud De la Faille; Francois-Guillaume Debray; Laurenne Dehoux; Georges Deschenes; Estelle Desport; Olivier Devuyst; Stella Dieguez; Francesco Emma; Michel Fischbach; Denis Fouque; Jacques Fourcade; Helene Francois; Brigitte Gilbert-Dussardier; Thierry Hannedouche; Pascal Houillier; Hassan Izzedine; Marco Janner; Alexandre Karras; Bertrand Knebelmann; Marie-Pierre Lavocat; Sandrine Lemoine; Valerie Leroy; Chantal Loirat; Marie-Alice Macher; Dominique Martin-Coignard; Denis Morin; Patrick Niaudet; Hubert Nivet; Francois Nobili; Robert Novo; Laurence Faivre; Claire Rigothier; Gwenaelle Roussey-Kesler; Remi Salomon; Andreas Schleich; Anne-Laure Sellier-Leclerc; Kenza Soulami; Aurelien Tiple; Tim Ulinski; Philippe Vanhille; Nicole Van Regemorter; Xavier Jeunemaitre; Rosa Vargas-Poussou

doi:10.1002/humu.22804

Retour

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Article de revue

Avec comité de lecture

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin, Stephane Lourdel, Cyrielle Treard, Wendy Gonzalez, Ariela Vergara-Jaque, Gilles Morin, Estelle Colin, …

Human mutation, Vol.36(8), pp.743-752

08/2015

DOI: https://doi.org/10.1002/humu.22804

PMID: 25907713

Résumé

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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.

Indicateurs

1 Consultations de la notice

Détails

Titre: Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
Créateurs - sans rôle: Lamisse Mansour-Hendili - Univ Paris 05, Fac Med, Paris, France
Anne Blanchard - Univ Paris 05, Fac Med, Paris, France
Nelly Le Pottier - Hop Europeen Georges Pompidou, AP HP, Serv Genet, F-75015 Paris, France
Isabelle Roncelin - Hop Europeen Georges Pompidou, AP HP, Serv Genet, F-75015 Paris, France
Stephane Lourdel - Univ Paris 06, Sorbonne Univ, Paris, France
Cyrielle Treard - Hop Europeen Georges Pompidou, AP HP, Serv Genet, F-75015 Paris, France
Wendy Gonzalez - Univ Talca, Ctr Bioinformat & Simulac Mol, Talca, Chile
Ariela Vergara-Jaque - Univ Talca, Ctr Bioinformat & Simulac Mol, Talca, Chile
Gilles Morin - Ctr Hosp Univ Amiens Picardie, Serv Genet & Oncogenet, Amiens, France
Estelle Colin - Centre Hospitalier Universitaire d'Angers
Muriel Holder-Espinasse - CHU Lille, Dept Genet, F-59037 Lille, France
Justine Bacchetta - Hosp Civils Lyon, Ctr Reference Malad Renales Rares, Serv Nephrol Rhumatol Dermatol Pediat, Lyon, France
Veronique Baudouin - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Stephane Benoit - CHU Tours, Serv Nephrol, Tours, France
Etienne Berard - CHU Nice, Serv Nephrol Pediat, F-06202 Nice, France
Guylhene Bourdat-Michel - CHU Grenoble, Dept Pediat, F-38043 Grenoble, France
Karim Bouchireb - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Stephane Burtey - Univ Aix Marseille 1, VRCM, Ctr Nephrol & Transplantat Renale, Marseille, France
Mathilde Cailliez - Hop Enfants La Timone, Assistance Publ Hop Marseille, Unit Nephrol Pediat, Marseille, France
Gerard Cardon - Ctr Hosp Douai, Serv Nephrol, Douai, France
Claire Cartery - Assistance Publique – Hôpitaux de Paris
Gerard Champion - CHU Angers, LUNAM Angers, Dept Pediat, Angers, France
Dominique Chauveau - Ctr Hosp Univ Toulouse, Dept Nephrol & Transplantat Organes, Hop Rangueil, Toulouse, France
Pierre Cochat - Hosp Civils Lyon, Ctr Reference Malad Renales Rares, Serv Nephrol Rhumatol Dermatol Pediat, Lyon, France
Karin Dahan - Inst Pathol & Genet, Dept Genet Humaine, Gosselies, Belgium
Renaud De la Faille - Ctr Hosp Univ Bordeaux, Serv Nephrol Transplantat Dialyse, Bordeaux, France
Francois-Guillaume Debray - CHU Sart Tilman, Dept Genet, B-4000 Liege, Belgium
Laurenne Dehoux - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Georges Deschenes - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Estelle Desport - Ctr Hosp Univ Poitiers, Serv Nephrol, Poitiers, France
Olivier Devuyst - Catholic Univ Louvain, Clin Univ St Luc, B-1200 Brussels, Belgium
Stella Dieguez - Hosp Gen Agudos Dr Teodoro Alvarez, Nefrol Infantil, Buenos Aires, DF, Argentina
Francesco Emma - Bambino Gesu Childrens Hosp IRCCS, Div Nephrol & Dialysis, Rome, Italy
Michel Fischbach - CHU Strasbourg, Serv Pediat, F-67000 Strasbourg, France
Denis Fouque - Ctr Hosp Univ Lyon Sud, Dept Nephrol, Lyon, France
Jacques Fourcade - Ctr Hosp Chambery, Serv Nephrol, Chambery, France
Helene Francois - Assistance Publique – Hôpitaux de Paris
Brigitte Gilbert-Dussardier - Ctr Hosp Univ Poitiers, Serv Genet, EA 3808, Poitiers, France
Thierry Hannedouche - Univ Strasbourg, Hop Univ Strasbourg, Serv Nephrol, Strasbourg, France
Pascal Houillier - Univ Paris 05, Fac Med, Paris, France
Hassan Izzedine - Assistance Publique – Hôpitaux de Paris
Marco Janner - Univ Bern, Childrens Hosp, Dept Paediat Endocrinol Diabetol & Metab, Bern, Switzerland
Alexandre Karras - Assistance Publique – Hôpitaux de Paris
Bertrand Knebelmann - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Marie-Pierre Lavocat - Hop Nord St Etienne, Ctr Hosp Univ St Etienne, Dept Pediat, St Etienne, France
Sandrine Lemoine - Hop Edouard Herriot, Hosp Civils Lyon, Serv Explorat Fonct Renale, Lyon, France
Valerie Leroy - CHU Lille, Hop Jeanne de Flandre, Serv Nephrol Pediat, F-59037 Lille, France
Chantal Loirat - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Marie-Alice Macher - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Dominique Martin-Coignard - Ctr Hosp Mans, Serv Genet, Le Mans, France
Denis Morin - CHU Montpellier, Unite Nephrol Pediat, Montpellier, France
Patrick Niaudet - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Hubert Nivet - CHU Tours, Serv Nephrol, Tours, France
Francois Nobili - CHU Besancon, Unite Nephrol Pediat, F-25030 Besancon, France
Robert Novo - CHU Lille, Hop Jeanne de Flandre, Serv Nephrol Pediat, F-59037 Lille, France
Laurence Faivre - Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France
Claire Rigothier - Ctr Hosp Univ Bordeaux, Serv Nephrol Transplantat Dialyse, Bordeaux, France
Gwenaelle Roussey-Kesler - CHU Nantes, Unite Nephrol Pediat, F-44035 Nantes 01, France
Remi Salomon - Univ Paris 05, Fac Med, Paris, France
Andreas Schleich - Inst Nephrol Statspital Waid Zuerich, Zurich, Switzerland
Anne-Laure Sellier-Leclerc - Hosp Civils Lyon, Ctr Reference Malad Renales Rares, Serv Nephrol Rhumatol Dermatol Pediat, Lyon, France
Kenza Soulami - Nephrologue Pediat, Casablanca, Morocco
Aurelien Tiple - Ctr Hosp Univ Gabriel Montpied, Serv Nephrol, Clermont Ferrand, France
Tim Ulinski - Ctr Reference Malad Renales Hereditaires Enfant &, Paris, France
Philippe Vanhille - Ctr Hosp Valenciennes, Serv Nephrol & Med Interne, Valenciennes, France
Nicole Van Regemorter - Univ Libre Bruxelles, Hop Erasme, Dept Genet Med, Brussels, Belgium
Xavier Jeunemaitre - Univ Paris 05, Fac Med, Paris, France
Rosa Vargas-Poussou - Hop Europeen Georges Pompidou, AP HP, Serv Genet, F-75015 Paris, France
Détails de publication: Human mutation, Vol.36(8), pp.743-752
Éditeur: Wiley
Nombre de pages: 10
Note de subvention: French Ministry of Health (Plan Maladies Rares) 310030_146490 / Swiss National Science Foundation; Swiss National Science Foundation (SNSF) 201590; 2012-305608 / European Community; European Commission RADIZ, Rare Diseases Initiative Zurich, a KFSP of the University of Zurich ACT-1104 / Chilean PIA-Conycit program
Identifiants: 99163090809311
Unité académique: Institut de Génomique Fonctionnelle - IGF
Langue: English
Type de ressource: Journal article