Author "Filhol, Emilie"

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1. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. [2023]

  • 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, Drouin Garraud, Valérie, 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, Abou Jaoude, Pauline, 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
  • In Kidney International January 2022

2. Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis [2017]

  • Macia, Maxence S., Halbritter, Jan, Delous, Marion, Bredrup, Cecilie, Gutter, Arthur, Filhol, Emilie, Mellgren, Anne E.C., Leh, Sabine, Bizet, Albane, Braun, Daniela A., Gee, Heon Y., Silbermann, Flora, Henry, Charline, Krug, Pauline, Bole-Feysot, Christine, Nitschké, Patrick, Joly, Dominique, Nicoud, Philippe, Paget, André, Haugland, Heidi, Brackmann, Damien, Ahmet, Nayir, Sandford, Richard, Cengiz, Nurcan, Knappskog, Per M., Boman, Helge, Linghu, Bolan, Yang, Fan, Oakeley, Edward J., Saint Mézard, Pierre, Sailer, Andreas W., Johansson, Stefan, Rødahl, Eyvind, Saunier, Sophie, Hildebrandt, Friedhelm, and Benmerah, Alexandre
  • American journal of human genetics. 100(2):323-333

3. DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis [2016]

  • Girard, Muriel, Bizet, Albane A., Lachaux, Alain, Gonzales, Emmanuel, Filhol, Emilie, Collardeau-Frachon, Sophie, Jeanpierre, Cecile, Henry, Charline, Fabre, Monique, Viremouneix, Loic, Galmiche, Louise, Debray, Dominique, Bole-Feysot, Christine, Nitschke, Patrick, Pariente, Daniele, Guettier, Catherine, Lyonnet, Stanislas, Heidet, Laurence, Bertholet, Aurelia, Jacquemin, Emmanuel, Henrion-Caude, Alexandra, and Saunier, Sophie
  • Human Mutation. Oct, 2016, Vol. 37 Issue 10, p1025, 5 p.

4. Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations [2012]

  • PERRAULT, Isabelle, SAUNIER, Sophie, ORSSAUD, Christophe, SILVA, Eduardo, BAUDOUIN, Véronique, OUD, Machteld M, SHANNON, Nora, LE MERRER, Martine, ROCHE, Olivier, PIETREMENT, Christine, GOUMID, Jamal, BAUMANN, Clarisse, HANEIN, Sylvain, BOLE-FEYSOT, Christine, NITSCHKE, Patrick, ZAHRATE, Mohammed, BEALES, Philip, ARTS, Heleen H, MUNNICH, Arnold, KAPLAN, Josseline, ANTIGNAC, Corinne, CORMIER-DAIRE, Valérie, ROZET, Jean-Michel, FILHOL, Emilie, BIZET, Albane A, COLLINS, Felicity, SALIH, Mustafa A. M, GERBER, Sylvie, DELPHIN, Nathalie, and BIGOT, Karine
  • American journal of human genetics. 90(5):864-870
Subjects
Genetics, Génétique, Sciences biologiques et medicales, Biological and medical sciences, Sciences biologiques fondamentales et appliquees. Psychologie, Fundamental and applied biological sciences. Psychology, Biologie moleculaire et cellulaire, Molecular and cellular biology, Genetique des eucaryotes. Evolution biologique et moleculaire, Genetics of eukaryotes. Biological and molecular evolution, Sciences medicales, Medical sciences, Genetique medicale, Medical genetics, Généralités. Conseil génétique, General aspects. Genetic counseling, Génétique, Genetics, Genética, Homme, Human, Hombre, Mutation, and Mutación
Abstract
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (1FT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells.

5. Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 [2011]

  • Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbo, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschke, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C. J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cecile, Boman, Helge, Rodahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V. A. M., Roepman, Ronald, Arts, Heleen H., Groningen Kidney Center (GKC), and Groningen Institute for Organ Transplantation (GIOT)
  • American Journal of Human Genetics. 89(5):634-643

6. A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS [2014]

  • Cong, Evelyne Huynh, Bizet, Albane A., Boyer, Olivia, Woerner, Stéphanie, Gribouval, Olivier, Filhol, Emilie, Arrondel, Christelle, Thomas, Sophie, Silbermann, Flora, and Canaud, Guillaume
  • Journal of the American Society of Nephrology. 25(11):2435-2444

7. Supplementary Material [2020]

  • Hamelin, Alexia, Conchou, Fabrice, Fusellier, Marion, Duchenij, Bettina, Vieira, Isabelle, Filhol, Emilie, Citres, Caroline Dufaure De, Tiret, Laurent, Gache, Vincent, and Abitbol, Marie
Subjects
70706 Veterinary Medicine and FOS: Veterinary sciences
Abstract
Custom microsatellite marker panel

8. Supplementary Material [2020]

  • Hamelin, Alexia, Conchou, Fabrice, Fusellier, Marion, Duchenij, Bettina, Vieira, Isabelle, Filhol, Emilie, Citres, Caroline Dufaure De, Tiret, Laurent, Gache, Vincent, and Abitbol, Marie
Subjects
70706 Veterinary Medicine and FOS: Veterinary sciences
Abstract
Custom microsatellite marker panel

9. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium [2014]

  • Thomas, Sophie, Wright, Kevin J., Le Corre, Stéphanie, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph G., Valente, Enza Maria, Jackson, Peter K., Drummond, Iain A., Saunier, Sophie, and Attié-Bitach, Tania
  • Human Mutation. Jan 01, 2014 35(1):137-146

10. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 [2013]

  • Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T., van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstadter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A., Eisenberger, Tobias, Elting, Mariet W., van Wijk, Joanna A.E., Bockenhauer, Detlef, Sebire, Neil J., Rittig, Soren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J., Elshakhs, Neveen A. Soliman, Koon, Sarah J., Harris, Peter C., Grahammer, Florian, Huber, Tobias B., Kuehn, E. Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J., Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, and Lienkamp, Soeren S.
  • Nature Genetics. August 2013, Vol. 45 Issue 8, p951, 8 p.

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12. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. [2023]

  • 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, 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, Drouin Garraud, Valérie, 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, Abou Jaoude, Pauline, 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, and Ziliotis, Marie-Julia
  • Kidney International; 20230101, Issue: Preprints
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 were 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.

13. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans [2013]

  • Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, and Hildebrandt, Friedhelm
  • Halbritter, J, Bizet, A A, Schmidts, M, Porath, J D, Braun, D A, Gee, H Y, McInerney-Leo, A M, Krug, P, Filhol, E, Davis, E E, Airik, R, Czarnecki, P G, Lehman, A M, Trnka, P, Nitschké, P, Bole-Feysot, C, Schueler, M, Knebelmann, B, Burtey, S, Szabó, A J, Tory, K, Leo, P J, Gardiner, B, McKenzie, F A, Zankl, A, Brown, M A, Hartley, J L, Maher, E R, Li, C, Leroux, M R, Scambler, P J, Zhan, S H, Jones, S J, Kayserili, H, Tuysuz, B, Moorani, K N, Constantinescu, A, Krantz, I D, Kaplan, B S, Shah, J V, Hurd, T W, Doherty, D, Katsanis, N, Duncan, E L, Otto, E A, Beales, P L, Mitchison, H M & Saunier, S & Hildebrandt, F 2013, ' Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans ', American Journal of Human Genetics, vol. 93, no. 5, pp. 915-25 . https://doi.org/10.1016/j.ajhg.2013.09.012
Subjects
Genetics(clinical), Genetics, Report, and sense organs
Abstract
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have unknown roles in human disease. To identify additional IFT-B components defective in ciliopathies, we independently performed different mutation analyses: candidate-based sequencing of all IFT-B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome resequencing in 63 individuals with ATD. We thereby detected biallelic mutations in the IFT-B-encoding gene IFT172 in 12 families. All affected individuals displayed abnormalities of the thorax and/or long bones, as well as renal, hepatic, or retinal involvement, consistent with the diagnosis of ATD or MZSDS. Additionally, cerebellar aplasia or hypoplasia characteristic of Joubert syndrome was present in 2 out of 12 families. Fibroblasts from affected individuals showed disturbed ciliary composition, suggesting alteration of ciliary transport and signaling. Knockdown of ift172 in zebrafish recapitulated the human phenotype and demonstrated a genetic interaction between ift172 and ift80. In summary, we have identified defects in IFT172 as a cause of complex ATD and MZSDS. Our findings link the group of skeletal ciliopathies to an additional IFT-B component, IFT172, similar to what has been shown for IFT-A.

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15. Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability [2014]

  • Failler, Marion, Gee, Heon Yung, Krug, Pauline, Joo, Kwangsic, Halbritter, Jan, Belkacem, Lilya, Filhol, Emilie, Porath, Jonathan D., Braun, Daniela A., Schueler, Markus, Frigo, Amandine, Alibeu, Olivier, Masson, Cécile, Brochard, Karine, Hurault de Ligny, Bruno, Novo, Robert, Pietrement, Christine, Kayserili, Hulya, Salomon, Rémi, Gubler, Marie-Claire, Otto, Edgar A., Antignac, Corinne, Kim, Joon, Benmerah, Alexandre, Hildebrandt, Friedhelm, and Saunier, Sophie
  • In The American Journal of Human Genetics 5 June 2014 94(6):905-914

16. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation [2016]

  • Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Remi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attie-Bitach, Tania, Jeanpierre, Cecile, and Saunier, Sophie
  • PLoS Genetics. March 11, 2016, Vol. 12 Issue 3, e1005894.

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18. A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium. [2014]

  • Thomas, Sophie, Wright, Kevin J., Corre, Stéphanie Le, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean‐Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, and Chassaing, Nicolas
  • Human Mutation; Jan2014, Vol. 35 Issue 1, p137-146, 10p
Abstract
ABSTRACT Joubert syndrome ( JS) is characterized by a distinctive cerebellar structural defect, namely the « molar tooth sign ». JS is genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In a consanguineous family with JS associated with optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing and mapping identified a homozygous splice-site mutation in PDE6 D, encoding a prenyl-binding protein. We found that pde6d depletion in zebrafish leads to renal and retinal developmental anomalies and wild-type but not mutant PDE6 D is able to rescue this phenotype. Proteomic analysis identified INPP5 E, whose mutations also lead to JS or mental retardation, obesity, congenital retinal dystrophy, and micropenis syndromes, as novel prenyl-dependent cargo of PDE6 D. Mutant PDE6 D shows reduced binding to INPP5 E, which fails to localize to primary cilia in patient fibroblasts and tissues. Furthermore, mutant PDE6 D is unable to bind to GTP-bound ARL3, which acts as a cargo-release factor for PDE6 D-bound INPP5 E. Altogether, these results indicate that PDE6 D is required for INPP5 E ciliary targeting and suggest a broader role for PDE6 D in targeting other prenylated proteins to the cilia. This study identifies PDE6 D as a novel JS disease gene and provides the first evidence of prenyl-binding-dependent trafficking in ciliopathies. [ABSTRACT FROM AUTHOR]

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20. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization [2015]

  • Bizet, Albane A., Becker-Heck, Anita, Ryan, Rebecca, Weber, Kristina, Filhol, Emilie, Krug, Pauline, Halbritter, Jan, Delous, Marion, Lasbennes, Marie-Christine, Linghu, Bolan, Oakeley, Edward J., Zarhrate, Mohammed, Nitschké, Patrick, Garfa-Traore, Meriem, Serluca, Fabrizio, Yang, Fan, Bouwmeester, Tewis, Pinson, Lucile, Cassuto, Elisabeth, Dubot, Philippe, Elshakhs, Neveen A. Soliman, Sahel, José A., Salomon, Rémi, Drummond, Iain A., Gubler, Marie-Claire, Antignac, Corinne, Chibout, Salahdine, Szustakowski, Joseph D., Hildebrandt, Friedhelm, Lorentzen, Esben, Sailer, Andreas W., Benmerah, Alexandre, Saint-Mezard, Pierre, and Saunier, Sophie
  • Bizet, A. A., A. Becker-Heck, R. Ryan, K. Weber, E. Filhol, P. Krug, J. Halbritter, et al. 2015. “Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.” Nature Communications 6 (1): 8666. doi:10.1038/ncomms9666. http://dx.doi.org/10.1038/ncomms9666.
Abstract
Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestations of ciliopathies. TRAF3IP1 encodes IFT54, a subunit of the IFT-B complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with pronephric cysts and microphthalmia in zebrafish embryos. Our findings highlight the regulation of cytoplasmic microtubule dynamics as a role of the IFT54 protein beyond the cilium, contributing to the development of NPH-related ciliopathies.

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