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1. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Author

Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Assia Batzir, Nurit, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Sofrin-Drucker, Efrat, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V., Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Schlosser, Pascal, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, Hrabe de Angelis, Martin, Ćomić, Jasmina, Akgün Doğan, Özlem, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Orenstein, Naama, Çalışkan, Salim, Weber, Ruthild G., Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Basel-Salmon, Lina, Borovitz, Yael, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian W., Renders, Lutz, Schmaderer, Christoph, Rogg, Manuel, Schell, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian J., Ozaltin, Fatih, Schmidts, Miriam, and Hoefele, Julia

Published
2024
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2. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, and Saunier, Sophie

Published
2023
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3. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David, Batourina, Ekaterina, Sampson, Matthew, Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina, Vivante, Asaf, Shril, Shirlee, Kil, Byum, Marasà, Maddalena, Zhang, Jun, Na, Young-Ji, Lim, Tze, Ahram, Dina, Weng, Patricia, Heinzen, Erin, Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna, Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria, Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark, Darlow, John, Puri, Prem, Barton, David, Furth, Susan, Warady, Bradley, Gucev, Zoran, Lozanovski, Vladimir, Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida, Campistol, Josep, Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig, Lin, Fangming, Miranda, Débora, Oliveira, Eduardo, Simões-E-Silva, Ana, Barasch, Jonathan, Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia, Mendelsohn, Cathy, Gharavi, Ali, and Sanna-Cherchi, Simone

Subjects
Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney, Male, Urinary Tract, Urogenital Abnormalities, Vesico-Ureteral Reflux
Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Published
2019

4. Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Author

Dorval, Guillaume, Jeanpierre, Cécile, Morinière, Vincent, Tournant, Carole, Bessières, Bettina, Attié-Bittach, Tania, Amiel, Jeanne, Spaggari, Emmanuel, Ville, Yves, Merieau, Elodie, Gubler, Marie-Claire, Saunier, Sophie, and Heidet, Laurence

Subjects
Gene mutations -- Research, Promoters (Genetics) -- Research, Polycystic kidney disease -- Genetic aspects -- Risk factors, Pediatric research, Phenotype -- Research, Health
Abstract

Background Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation. While biallelic coding PMM2 mutations are involved in congenital disorder of glycosylation CDG1A, that particular variant in the promoter of the gene, either in the homozygous state or associated with a mutation in the coding exons of the gene, is thought to restrict the N-glycosylation defect to the kidney and the pancreas. Methods Targeted exome sequencing of a panel of genes involved in monogenic kidney diseases. Results We identified a PMM2 variant at position -167 associated with a pathogenic PMM2 variant in the coding exons in 3 families, comprising 6 cases affected with a cystic kidney disease. The spectrum of phenotypes was very broad, from extremely enlarged fetal cystic kidneys in the context of a COACH-like syndrome, to isolated cystic kidney disease with small kidneys, slowly progressing toward kidney failure in adulthood. Hypoglycemia was reported only in one case. Conclusion These data show that the PMM2 promotor variation, in trans of a PMM2 coding mutation, is associated with a wide spectrum of kidney phenotypes, and is not always associated with extra-renal symptoms. When present, extra-renal defects may include COACH-like syndrome. These data prompt screening of PMM2 in unresolved cases of fetal hyperechogenic/cystic kidneys as well as in cystic kidney disease in children and adults., Author(s): Guillaume Dorval [sup.1] [sup.2] , Cécile Jeanpierre [sup.2] , Vincent Morinière [sup.1] , Carole Tournant [sup.1] , Bettina Bessières [sup.3] , Tania Attié-Bittach [sup.3] [sup.4] , Jeanne Amiel [sup.4] [...]

Published
2021
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5. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Author

Petzold, Friederike, primary, Billot, Katy, additional, Chen, Xiaoyi, additional, Henry, Charline, additional, Filhol, Emilie, additional, Martin, Yoann, additional, Avramescu, Marina, additional, Douillet, Maxime, additional, Morinière, Vincent, additional, Krug, Pauline, additional, Jeanpierre, Cécile, additional, Tory, Kalman, additional, Boyer, Olivia, additional, Burgun, Anita, additional, Servais, Aude, additional, Salomon, Remi, additional, Benmerah, Alexandre, additional, Heidet, Laurence, additional, Garcelon, Nicolas, additional, Antignac, Corinne, additional, Zaidan, Mohamad, additional, Saunier, Sophie, additional, Attié-Bitach, Tania, additional, Comier-Daire, Valerie, additional, Rozet, Jean-Michel, additional, Frishberg, Yaacov, additional, Llanas, Brigitte, additional, Broyer, Michel, additional, Mohsin, Nabil, additional, Macher, Marie-Alice, additional, Philip, Nicole, additional, Baudouin, Véronique, additional, Brackman, Damian, additional, Loirat, Chantal, additional, Charbit, Marina, additional, Dehennault, Maud, additional, Guyot, Claude, additional, Bataille, Pierre, additional, Elting, Mariet, additional, Deschenes, Georges, additional, Gropman, Andrea, additional, Guest, Geneviève, additional, Gagnadoux, Marie-France, additional, Nicoud, Philippe, additional, Cochat, Pierre, additional, Ranchin, Bruno, additional, Bensman, Albert, additional, Guerrot, Anne-Marie, additional, Knebelmann, Bertrand, additional, Bilge, Ilmay, additional, Bruno, Danièle, additional, Burtey, Stéphane, additional, Rouvière, Caroline Rousset, additional, Caudwell, Valérie, additional, Morin, Denis, additional, Dollfus, Hélène, additional, Maisin, Anne, additional, Hamel, Christian, additional, Bieth, Eric, additional, Gie, Sophie, additional, Goodship, Judith, additional, Roussey, Gwenaelle, additional, La Selve, Hermine, additional, Nivet, Hubert, additional, Bessenay, Lucie, additional, Caillez, Mathilde, additional, Palcoux, Jean Bernard, additional, Benoît, Stéphane, additional, Dubot, Philippe, additional, Fila, Marc, additional, Giuliano, Fabienne, additional, Iftene, Daouya, additional, Kessler, Michele, additional, Kwon, Theresa, additional, Lahoche, Anine, additional, Laurent, Audrey, additional, Leclerc, Anne-Laure, additional, Milford, David, additional, Neuhaus, Thomas, additional, Odent, Sylvie, additional, Eckart, Philippe, additional, Chauveau, Dominique, additional, Niaudet, Patrick, additional, Repetto, Horacio, additional, Taque, Sophie, additional, Bruel, Alexandra, additional, Noel-Botte, Alexandra, additional, Launay, Emma Allain, additional, Allard, Lisa, additional, Anlicheau, Dany, additional, Adra, Anne-Laure, additional, Garnier, Arnaud, additional, Nagra, Arvind, additional, Baatard, Remy, additional, Bacchetta, Justine, additional, Sadikoglu, Banu, additional, Barnerias, Christine, additional, Barthelemy, Anne, additional, Basel, Lina, additional, Bassilios, Nader, additional, Ben Maiz, Hedi, additional, Ben Moussa, Fatma, additional, Benmati, Faïza, additional, Berthaud, Romain, additional, Bertholet, Aurélia, additional, Blanchier, Dominique, additional, Boffa, Jean Jacques, additional, Bouchireb, Karim, additional, Bouhabel, Ihab, additional, Boukerroucha, Zakaria, additional, Bourdat-Michel, Guylhène, additional, Boute, Odile, additional, Brochard, Karine, additional, Caumes, Roseline, additional, Elalaoui, Siham Chafai, additional, Chamontin, Bernard, additional, Chastang, Marie Caroline, additional, Pietrement, Christine, additional, Richer, Christine, additional, Legendre, Christophe, additional, Dahan, Karin, additional, Dalla-Vale, Fabienne, additional, Thibaudin, Damien, additional, Dauvergne, Maxime, additional, Davourie, Salandre, additional, Debeukelaer, Martin, additional, Delbet, Jean Daniel, additional, Deltas, Constantinos, additional, Graber, Denis, additional, Devillars, Nadège, additional, Diouf, Boucar, additional, Fenzy, Martine Doco, additional, André, Jean-Luc, additional, Joly, Dominique, additional, Fryer, Alan, additional, Albano, Laetitia, additional, Cassuto, Elisabeth, additional, Pincon, Aline, additional, Medeira, Ana, additional, Chaussenot, Annabelle, additional, Mensire-Marinier, Anne, additional, Bouissou, Francois, additional, Decramer, Stephane, additional, Bottani, Armand, additional, Hummel, Aurélie, additional, Karras, Alexandre, additional, Katz, Avi, additional, Azema, Christine, additional, Janbon, Bénédicte, additional, Roussel, Bernard, additional, Bonniol, Claude, additional, Mariat, Christiophe, additional, Champion, Gérard, additional, Chantreuil, Deborah, additional, Chassaing, Nicolas, additional, Mousson, Christiane, additional, Baudeau, Christine, additional, Cuntz, Delphine Hafdar, additional, Mignot, Cyril, additional, Dehoux, Laurene, additional, Lacombe, Didier, additional, Hannedouche, Thierry, additional, Mérieau, Elodie, additional, Charlin, Emmanuelle, additional, Gauthier, Eric, additional, Plasse, Florent, additional, Faguer, Stanislas, additional, Lebas, Fanny, additional, Demurger, Florence, additional, Emma, Francesco, additional, Cartault, François, additional, Dumont, Geneviève, additional, Godefroid, Nathalie, additional, Guigonis, Vincent, additional, Hillaire, Sophie, additional, Groothoff, Jaap, additional, Dudley, Jan, additional, Jourde-Chiche, Noémie, additional, El Karoui, Khalil, additional, Krid, Saoussen, additional, Coudert, Krier, additional, Bencheick, Larbi, additional, Yver, Laurent, additional, Lavocat, Marie-Pierre, additional, De Sagazan, Le Monies, additional, Leroy, Valerie, additional, Thibaudin, Lise, additional, Ingulli, Liz, additional, Gwanmesia, Lorraine, additional, Burglen, Lydie, additional, Saïd-Menthon, Marie-Hélène, additional, Carrera, Marta, additional, Nizon, Mathilde, additional, Melander, Catherine, additional, Foulard, Michel, additional, Blayo, Monique, additional, Prinseau, Jacques, additional, Jay, Nadine, additional, Brun, Nathalie, additional, Camille, Nicolas, additional, Nobili, François, additional, Devuyst, Olivier, additional, Ben Brahim, Ouafa, additional, Parvex, Paloma, additional, Sabourin, Laurence Perrin, additional, Blanc, Philippe, additional, Vanhille, Philippe, additional, Galichon, Pierre, additional, Pierrepont, Sophie, additional, Planquois, Vincent, additional, Poussard, Gwenaelle, additional, Noble, Claire Pouteil, additional, Allal, Radia, additional, Bernard, Raphaelle, additional, Mounet, Raynaud, additional, Cahen, Rémi, additional, Touraine, Renaud, additional, Rigothier, Claire, additional, Ryckewaert, Amélie, additional, Sacquepee, Mathieu, additional, El Chehadeh, Salima, additional, Samaille, Charlotte, additional, Haq, Shuman, additional, Simckes, Ari, additional, Lanoiselée, Stéphanie, additional, Tellier, Stephanie, additional, Subra, Jean-François, additional, Cloarec, Sylvie, additional, Tenenbam, Julie, additional, Lamy, Thomas, additional, Drouin Garraud, Valérie, additional, Valette, Huguette, additional, Meyssonnier, Vanina, additional, Vargas-Poussou, Rosa, additional, Snajer, Yves, additional, Durault, Sandrine, additional, Plaisier, Emmanuelle, additional, Berard, Etienne, additional, Fakhouri, Fadi, additional, Louillet, Ferielle, additional, Finielz, Paul, additional, Fischbach, Michel, additional, Foliguet, Bernard, additional, Francois-Pradier, Hélène, additional, Garaix, Florentine, additional, Gerard, Marion, additional, Rizzoni, Gianfranco, additional, Gilbert, Brigitte, additional, Glotz, Denis, additional, Dubrasquet, Astrid Godron, additional, Grünfeld, Jean-Pierre, additional, Bollee, Guillaume, additional, Hall, Michelle, additional, Hansson, Sverker, additional, Haye, Damien, additional, Taffin, Hélène, additional, Hildebrandt, Friedhelm, additional, Hourmand, Maryvonne, additional, Kayserili, Hümya, additional, Tack, Ivan, additional, Jacquemont, Marie Line, additional, Fabre-Teste, Jennifer, additional, Kashtan, Cliff, additional, Van Hoeck, Kkoen, additional, Klein, Alexandre, additional, Knefati, Yannick, additional, Knoers, Nine, additional, Konrad, Martin, additional, Lachaux, Alain, additional, Landru, Isabelle, additional, Landthaler, Gilbert, additional, Lang, Philippe, additional, Le Pogamp, Patrick, additional, Legris, Tristan, additional, Didailler, Catherine, additional, Lobbedez, Thierry, additional, de Parscau, Loïc, additional, Pinson, Lucile, additional, Maheut, Hervé, additional, Duval-Arnould, Marc, additional, Rio, Marlène, additional, Gubler, Marie-Claire, additional, Merville, Pierre, additional, Mestrallet, Guillaume, additional, Meunier, Maite, additional, Moreau, Karine, additional, Harambat, Jérôme, additional, Morgan, Graeme, additional, Mourad, Georges, additional, Stuber, Niksic, additional, Boespflug-Tanguy, Odile, additional, Dunand, Olivier, additional, Niel, Olivier, additional, Ouali, Nacera, additional, Malvezzi, Paolo, additional, Abou Jaoude, Pauline, additional, Pelletier, Solenne, additional, Peltier, Julie, additional, Petersen, M.B., additional, Michel, Philippe, additional, Rémy, Philippe, additional, Philit, Jean-Baptiste, additional, Pichault, Valérie, additional, Billette de Villemeur, Thierry, additional, Boudailliez, Bernard, additional, Leheup, Bruno, additional, Dossier, Claire, additional, Djeddi, Djamal-Dine, additional, Berland, Yves, additional, Hurault de Ligny, Bruno, additional, Rigden, Susan, additional, Robino, Christophe, additional, Rossi, Annick, additional, Sarnacki, Sabine, additional, Saidani, Messaoud, additional, Sartorius, Albane Brodin, additional, Schäfer, Elise, additional, Laszlo, Sztriha, additional, Thouret, Marie-Christine, additional, Thuillier-Lecouf, Angélique, additional, Trachtman, Howard, additional, Trivin, Claire, additional, Tsimaratos, Michel, additional, Van Damme-Lombaerts, Rita, additional, Willems, Marjolaine, additional, Youssef, Michel, additional, Zaloszyc, Ariane, additional, Zawodnik, Alexis, additional, and Ziliotis, Marie-Julia, additional

Published
2023
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6. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie, INSERM–Necker Hospital NPH collaborative group, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie, and INSERM–Necker Hospital NPH collaborative group

Abstract

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease.

Published
2023

7. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

Author

Kosfeld, Anne, Kreuzer, Martin, Daniel, Christoph, Brand, Frank, Schäfer, Anne-Kathrin, Chadt, Alexandra, Weiss, Anna-Carina, Riehmer, Vera, Jeanpierre, Cécile, Klintschar, Michael, Bräsen, Jan Hinrich, Amann, Kerstin, Pape, Lars, Kispert, Andreas, Al-Hasani, Hadi, Haffner, Dieter, and Weber, Ruthild G.

Published
2016
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8. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Author

Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, and Jeanpierre, Cécile

Published
2017
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9. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasa, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simoes-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., and Sanna-Cherchi, Simone

Published
2019
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10. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

Author

Jordan, Penelope, primary, Dorval, Guillaume, additional, Arrondel, Christelle, additional, Morinière, Vincent, additional, Tournant, Carole, additional, Audrezet, Marie‐Pierre, additional, Michel‐Calemard, Laurence, additional, Putoux, Audrey, additional, Lesca, Gaethan, additional, Labalme, Audrey, additional, Whalen, Sandra, additional, Loeuillet, Laurence, additional, Martinovic, Jelena, additional, Attie‐Bitach, Tania, additional, Bessières, Bettina, additional, Schaefer, Elise, additional, Scheidecker, Sophie, additional, Lambert, Laetitia, additional, Beneteau, Claire, additional, Patat, Olivier, additional, Boute‐Benejean, Odile, additional, Molin, Arnaud, additional, Guimiot, Fabien, additional, Fontanarosa, Nicolas, additional, Nizon, Mathilde, additional, Lefebvre, Mathilde, additional, Jeanpierre, Cécile, additional, Saunier, Sophie, additional, and Heidet, Laurence, additional

Published
2022
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12. Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics 1 and centrosome cohesion 2

Author

Dupont, Marie, Humbert, Camille, Huber, Céline, Siour, Quentin, Chiara, Ida, Jung, Vincent, Christensen, Anni, Pouliet, Aurore, Garfa-Traore, Meriem, Injeyan, Marie, Millar, Kathryn, Chitayat, David, Shannon, Patrick, Girisha, Mohan, Shukla, Anju, Mechler, Charlotte, Lorentzen, Esben, Cormier-Daire, Valérie, Jeanpierre, Cécile, Saunier, Sophie, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Toronto, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Jeanpierre, Cécile

Subjects
[SDV] Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV]Life Sciences [q-bio], [SDV.GEN] Life Sciences [q-bio]/Genetics, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2019

17. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Author

Jeanpierre, Cécile, Macé, Guillaume, Parisot, Mélanie, Morinière, Vincent, Pawtowsky, Audrey, Benabou, Marion, Martinovic, Jelena, Amiel, Jeanne, Attié-Bitach, Tania, Delezoide, Anne-Lise, Loget, Philippe, Blanchet, Patricia, Gaillard, Dominique, Gonzales, Marie, Carpentier, Wassila, Nitschke, Patrick, Tores, Frédéric, Heidet, Laurence, Antignac, Corinne, and Salomon, Rémi

Published
2011
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21. Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

Author

Dupont, Marie Alice, primary, Humbert, Camille, additional, Huber, Céline, additional, Siour, Quentin, additional, Guerrera, Ida Chiara, additional, Jung, Vincent, additional, Christensen, Anni, additional, Pouliet, Aurore, additional, Garfa-Traoré, Meriem, additional, Nitschké, Patrick, additional, Injeyan, Marie, additional, Millar, Kathryn, additional, Chitayat, David, additional, Shannon, Patrick, additional, Girisha, Katta Mohan, additional, Shukla, Anju, additional, Mechler, Charlotte, additional, Lorentzen, Esben, additional, Benmerah, Alexandre, additional, Cormier-Daire, Valérie, additional, Jeanpierre, Cécile, additional, Saunier, Sophie, additional, and Delous, Marion, additional

Published
2019
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22. The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, primary, Westland, Rik, additional, Perez, Alejandra, additional, Kiryluk, Krzysztof, additional, Liu, Qingxue, additional, Krithivasan, Priya, additional, Mitrotti, Adele, additional, Fasel, David A., additional, Batourina, Ekaterina, additional, Sampson, Matthew G., additional, Bodria, Monica, additional, Werth, Max, additional, Kao, Charlly, additional, Martino, Jeremiah, additional, Capone, Valentina P., additional, Vivante, Asaf, additional, Shril, Shirlee, additional, Kil, Byum Hee, additional, Marasà, Maddalena, additional, Zhang, Jun Y., additional, Na, Young-Ji, additional, Lim, Tze Y., additional, Ahram, Dina, additional, Weng, Patricia L., additional, Heinzen, Erin L., additional, Carrea, Alba, additional, Piaggio, Giorgio, additional, Gesualdo, Loreto, additional, Manca, Valeria, additional, Masnata, Giuseppe, additional, Gigante, Maddalena, additional, Cusi, Daniele, additional, Izzi, Claudia, additional, Scolari, Francesco, additional, van Wijk, Joanna A. E., additional, Saraga, Marijan, additional, Santoro, Domenico, additional, Conti, Giovanni, additional, Zamboli, Pasquale, additional, White, Hope, additional, Drozdz, Dorota, additional, Zachwieja, Katarzyna, additional, Miklaszewska, Monika, additional, Tkaczyk, Marcin, additional, Tomczyk, Daria, additional, Krakowska, Anna, additional, Sikora, Przemyslaw, additional, Jarmoliński, Tomasz, additional, Borszewska-Kornacka, Maria K., additional, Pawluch, Robert, additional, Szczepanska, Maria, additional, Adamczyk, Piotr, additional, Mizerska-Wasiak, Malgorzata, additional, Krzemien, Grazyna, additional, Szmigielska, Agnieszka, additional, Zaniew, Marcin, additional, Dobson, Mark G., additional, Darlow, John M., additional, Puri, Prem, additional, Barton, David E., additional, Furth, Susan L., additional, Warady, Bradley A., additional, Gucev, Zoran, additional, Lozanovski, Vladimir J., additional, Tasic, Velibor, additional, Pisani, Isabella, additional, Allegri, Landino, additional, Rodas, Lida M., additional, Campistol, Josep M., additional, Jeanpierre, Cécile, additional, Alam, Shumyle, additional, Casale, Pasquale, additional, Wong, Craig S., additional, Lin, Fangming, additional, Miranda, Débora M., additional, Oliveira, Eduardo A., additional, Simões-e-Silva, Ana Cristina, additional, Barasch, Jonathan M., additional, Levy, Brynn, additional, Wu, Nan, additional, Hildebrandt, Friedhelm, additional, Ghiggeri, Gian Marco, additional, Latos-Bielenska, Anna, additional, Materna-Kiryluk, Anna, additional, Zhang, Feng, additional, Hakonarson, Hakon, additional, Papaioannou, Virginia E., additional, Mendelsohn, Cathy L., additional, Gharavi, Ali G., additional, and Sanna-Cherchi, Simone, additional

Published
2018
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24. Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Author

De Tomasi, Lara, primary, David, Pierre, additional, Humbert, Camille, additional, Silbermann, Flora, additional, Arrondel, Christelle, additional, Tores, Frédéric, additional, Fouquet, Stéphane, additional, Desgrange, Audrey, additional, Niel, Olivier, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Roume, Joëlle, additional, Cordier, Marie-Pierre, additional, Pietrement, Christine, additional, Isidor, Bertrand, additional, Khau Van Kien, Philippe, additional, Gonzales, Marie, additional, Saint-Frison, Marie-Hélène, additional, Martinovic, Jelena, additional, Novo, Robert, additional, Piard, Juliette, additional, Cabrol, Christelle, additional, Verma, Ishwar C., additional, Puri, Ratna, additional, Journel, Hubert, additional, Aziza, Jacqueline, additional, Gavard, Laurent, additional, Said-Menthon, Marie-Hélène, additional, Heidet, Laurence, additional, Saunier, Sophie, additional, and Jeanpierre, Cécile, additional

Published
2017
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25. Deducing the stage of origin of Wilms tumours from a developmental series of Wt1 mutants

Author

Berry, Rachel L, Ozdemir, Derya D, Aronow, Bruce, Lindstrom, Nils, Dudnakova, Tatiana, Thornburn, Anna, Perry, Paul, Baldock, Richard, Armit, Chris, Joshi, Anagha, Jeanpierre, Cécile, Shan, Jingdong, Vainio, Seppo, Baily, James, Brownstein, David, Davies, Jamie, Hastie, Nicholas D, and Hohenstein, Peter

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, urogenital system, urologic and male genital diseases, female genital diseases and pregnancy complications
Abstract

Wilms' tumours, paediatric kidney cancers, are the archetypal example of tumours caused through the disruption of normal development. The genetically best defined subgroup of Wilms' tumours is the group caused by biallelic loss of the WT1 tumour suppressor gene. Here we describe a developmental series of mouse models with conditional loss of Wt1 in different stages of nephron development before and after the mesenchymal to epithelial transition (MET). We demonstrate that Wt1 is essential for normal development at all kidney developmental stages under study. Comparison of genome-wide expression data from the mutant mouse models to human tumour material of WT1-mutant and WT1 wild-type datasets identifies the stage of origin of human WT1-mutant tumours, and emphasizes fundamental differences between the two human tumour groups due to different developmental stages of origin.

Published
2015
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26. DCDC2Mutations Cause Neonatal Sclerosing Cholangitis

Author

Girard, Muriel, primary, Bizet, Albane A., additional, Lachaux, Alain, additional, Gonzales, Emmanuel, additional, Filhol, Emilie, additional, Collardeau-Frachon, Sophie, additional, Jeanpierre, Cécile, additional, Henry, Charline, additional, Fabre, Monique, additional, Viremouneix, Loic, additional, Galmiche, Louise, additional, Debray, Dominique, additional, Bole-Feysot, Christine, additional, Nitschke, Patrick, additional, Pariente, Danièle, additional, Guettier, Catherine, additional, Lyonnet, Stanislas, additional, Heidet, Laurence, additional, Bertholet, Aurelia, additional, Jacquemin, Emmanuel, additional, Henrion-Caude, Alexandra, additional, and Saunier, Sophie, additional

Published
2016
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27. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

Author

Grampa, Valentina, primary, Delous, Marion, additional, Zaidan, Mohamad, additional, Odye, Gweltas, additional, Thomas, Sophie, additional, Elkhartoufi, Nadia, additional, Filhol, Emilie, additional, Niel, Olivier, additional, Silbermann, Flora, additional, Lebreton, Corinne, additional, Collardeau-Frachon, Sophie, additional, Rouvet, Isabelle, additional, Alessandri, Jean-Luc, additional, Devisme, Louise, additional, Dieux-Coeslier, Anne, additional, Cordier, Marie-Pierre, additional, Capri, Yline, additional, Khung-Savatovsky, Suonavy, additional, Sigaudy, Sabine, additional, Salomon, Rémi, additional, Antignac, Corinne, additional, Gubler, Marie-Claire, additional, Benmerah, Alexandre, additional, Terzi, Fabiola, additional, Attié-Bitach, Tania, additional, Jeanpierre, Cécile, additional, and Saunier, Sophie, additional

Published
2016
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29. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

Author

Kosfeld, Anne, primary, Kreuzer, Martin, additional, Daniel, Christoph, additional, Brand, Frank, additional, Schäfer, Anne-Kathrin, additional, Chadt, Alexandra, additional, Weiss, Anna-Carina, additional, Riehmer, Vera, additional, Jeanpierre, Cécile, additional, Klintschar, Michael, additional, Bräsen, Jan Hinrich, additional, Amann, Kerstin, additional, Pape, Lars, additional, Kispert, Andreas, additional, Al-Hasani, Hadi, additional, Haffner, Dieter, additional, and Weber, Ruthild G., additional

Published
2015
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30. Deducing the stage of origin of Wilms' tumours from a developmental series of Wt1-mutant mice

Author

Berry, Rachel L., primary, Ozdemir, Derya D., additional, Aronow, Bruce, additional, Lindström, Nils O., additional, Dudnakova, Tatiana, additional, Thornburn, Anna, additional, Perry, Paul, additional, Baldock, Richard, additional, Armit, Chris, additional, Joshi, Anagha, additional, Jeanpierre, Cécile, additional, Shan, Jingdong, additional, Vainio, Seppo, additional, Baily, James, additional, Brownstein, David, additional, Davies, Jamie, additional, Hastie, Nicholas D., additional, and Hohenstein, Peter, additional

Published
2015
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31. Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Author

Humbert, Camille, primary, Silbermann, Flora, additional, Morar, Bharti, additional, Parisot, Mélanie, additional, Zarhrate, Mohammed, additional, Masson, Cécile, additional, Tores, Frédéric, additional, Blanchet, Patricia, additional, Perez, Marie-José, additional, Petrov, Yuliya, additional, Khau Van Kien, Philippe, additional, Roume, Joelle, additional, Leroy, Brigitte, additional, Gribouval, Olivier, additional, Kalaydjieva, Luba, additional, Heidet, Laurence, additional, Salomon, Rémi, additional, Antignac, Corinne, additional, Benmerah, Alexandre, additional, Saunier, Sophie, additional, and Jeanpierre, Cécile, additional

Published
2014
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32. Severe Prenatal Renal Anomalies Associated with Mutations inHNF1BorPAX2Genes

Author

Madariaga, Leire, primary, Morinière, Vincent, additional, Jeanpierre, Cécile, additional, Bouvier, Raymonde, additional, Loget, Philippe, additional, Martinovic, Jelena, additional, Dechelotte, Pierre, additional, Leporrier, Nathalie, additional, Thauvin-Robinet, Christel, additional, Jensen, Uffe Birk, additional, Gaillard, Dominique, additional, Mathieu, Michele, additional, Turlin, Bruno, additional, Attie-Bitach, Tania, additional, Salomon, Rémi, additional, Gübler, Marie-Claire, additional, Antignac, Corinne, additional, and Heidet, Laurence, additional

Published
2013
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34. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Author

Girard, Muriel, Bizet, Albane A., Lachaux, Alain, Gonzales, Emmanuel, Filhol, Emilie, Collardeau‐Frachon, Sophie, Jeanpierre, Cécile, Henry, Charline, Fabre, Monique, Viremouneix, Loic, Galmiche, Louise, Debray, Dominique, Bole‐Feysot, Christine, Nitschke, Patrick, Pariente, Danièle, Guettier, Catherine, Lyonnet, Stanislas, Heidet, Laurence, Bertholet, Aurelia, and Jacquemin, Emmanuel

Abstract

ABSTRACT Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified with a CLDN1 mutation, encoding a tight-junction protein. However, for the majority of patients, the molecular basis of NSC remains unknown. We identified biallelic missense mutations or in-frame deletion in DCDC2 in four affected children. Mutations involve highly conserved amino acids in the doublecortin domains of the protein. In cholangiocytes, DCDC2 protein is normally located in the cytoplasm and cilia, whereas in patients the mutated protein is accumulated in the cytoplasm, absent from cilia, and associated with ciliogenesis defect. This is the first report of DCDC2 mutations in NSC. This data expands the molecular spectrum of NSC, that can be considered as a ciliopathy and also expands the clinical spectrum of the DCDC2 mutations, previously reported in dyslexia, deafness, and nephronophtisis. [ABSTRACT FROM AUTHOR]

Published
2016
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35. Wilms’ tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

Author

Isidor, Bertrand, primary, Bourdeaut, Franck, additional, Lafon, Delfine, additional, Plessis, Ghislaine, additional, Lacaze, Elodie, additional, Kannengiesser, Caroline, additional, Rossignol, Sylvie, additional, Pichon, Olivier, additional, Briand, Annaig, additional, Martin-Coignard, Dominique, additional, Piccione, Maria, additional, David, Albert, additional, Delattre, Olivier, additional, Jeanpierre, Cécile, additional, Sévenet, Nicolas, additional, and Le Caignec, Cédric, additional

Published
2012
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36. FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

Author

Barak, Hila, primary, Huh, Sung-Ho, additional, Chen, Shuang, additional, Jeanpierre, Cécile, additional, Martinovic, Jelena, additional, Parisot, Mélanie, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Salomon, Rémi, additional, Antignac, Corinne, additional, Ornitz, David M., additional, and Kopan, Raphael, additional

Published
2012
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37. Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Author

Bredrup, Cecilie, primary, Saunier, Sophie, additional, Oud, Machteld M., additional, Fiskerstrand, Torunn, additional, Hoischen, Alexander, additional, Brackman, Damien, additional, Leh, Sabine M., additional, Midtbø, Marit, additional, Filhol, Emilie, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Gilissen, Christian, additional, Haugen, Olav H., additional, Sanders, Jan-Stephan F., additional, Stolte-Dijkstra, Irene, additional, Mans, Dorus A., additional, Steenbergen, Eric J., additional, Hamel, Ben C.J., additional, Matignon, Marie, additional, Pfundt, Rolph, additional, Jeanpierre, Cécile, additional, Boman, Helge, additional, Rødahl, Eyvind, additional, Veltman, Joris A., additional, Knappskog, Per M., additional, Knoers, Nine V.A.M., additional, Roepman, Ronald, additional, and Arts, Heleen H., additional

Published
2011
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38. WNT/β‐catenin pathway activation in Wilms tumors: A unifying mechanism with multiple entries?

Author

Corbin, Marie, primary, de Reyniès, Aurélien, additional, Rickman, David S., additional, Berrebi, Dominique, additional, Boccon‐Gibod, Liliane, additional, Cohen‐Gogo, Sarah, additional, Fabre, Monique, additional, Jaubert, Francis, additional, Faussillon, Marine, additional, Yilmaz, Funda, additional, Sarnacki, Sabine, additional, Landman‐Parker, Judith, additional, Patte, Catherine, additional, Schleiermacher, Gudrun, additional, Antignac, Corinne, additional, and Jeanpierre, Cécile, additional

Published
2009
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39. High Cyclin E Staining Index in Blastemal, Stromal or Epithelial Cells Is Correlated with Tumor Aggressiveness in Patients with Nephroblastoma

Author

Berrebi, Dominique, primary, Leclerc, Julie, additional, Schleiermacher, Gudrun, additional, Zaccaria, Isabelle, additional, Boccon-Gibod, Liliane, additional, Fabre, Monique, additional, Jaubert, Francis, additional, El Ghoneimi, Alaa, additional, Jeanpierre, Cécile, additional, and Peuchmaur, Michel, additional

Published
2008
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43. Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.

Author

Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, and Le Caignec, Cédric

Subjects
NEPHROBLASTOMA, SYNDROMES, NONSENSE mutation, DNA analysis, BLOOD testing, PATIENTS
Abstract

Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 gene. Subsequently, we identified a somatic PTCH1 nonsense mutation in the renal tumor of one patient. In addition, by array comparative genomic hybridization method, we analyzed the DNA extracted from the blood samples of nine patients with overgrowth syndrome and WT, but did not identify any deleterious chromosomal imbalances in these patients. These findings strongly suggest that patients with constitutional 9q22.3 microdeletion have an increased risk of WT, and that PTCH1 have a role in the pathogenesis of nephroblastomas. [ABSTRACT FROM AUTHOR]

Published
2013
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48. Cadherins in Wilms' tumor: E-cadherin expression despite absence of WT1.

Author

Baudry D, Cabanis MO, Patte C, Zucker JM, Pein F, Fournet JC, Sarnacki S, Junien C, and Jeanpierre C

Subjects
Cadherins genetics, Chromosomes, Human, Pair 16 genetics, Down-Regulation, Gene Expression Regulation, Neoplastic, Humans, Kidney metabolism, Kidney Neoplasms genetics, Loss of Heterozygosity, Protein Isoforms, WT1 Proteins genetics, Wilms Tumor genetics, Cadherins biosynthesis, Kidney Neoplasms metabolism, WT1 Proteins biosynthesis, Wilms Tumor metabolism
Abstract

Loss of heterozygosity of chromosome 16q occurs in 17-25% of Wilms' tumors. Two cadherin genes mapping to 16q22 were chosen as candidate gens: E-CAD, encoding epithelial cadherin, because it is involved in kidney development and it was recently reported to be a WT1 target; and KSP-CAD because it encodes a kidney-specific cadherin. By RT-PCR analysis in a series of 39 Wilms' tumors, we identified a very low expression of E-CAD and KSP-CAD in 72% and 95% of the tumors, respectively. To ascertain whether down-expression of these genes could be related to WT1 alterations in tumors, we looked for a relationship between WT1 and CAD expression. Our data suggest (i) the existence of alternative mechanisms for regulating E-CAD expression, and (ii) that E-CAD does not belong to the WT1 pathway that is altered in Wilms' tumorigenesis.

Published
2003

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