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1. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille

Published
2024
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3. Esketamine-induced post-traumatic stress disorder flashbacks during treatment-resistant depression indication: is it just a side effect?

Author

Rotharmel, Maud, primary, Mekaoui, Lila, additional, Kazour, Francois, additional, Herrero, Morgane, additional, Beetz-Lobono, Eva-Maria, additional, Lengvenyte, Aiste, additional, Holtzmann, Jerome, additional, Raynaud, Philippe, additional, Cuenca, Macarena, additional, Bulteau, Samuel, additional, de Maricourt, Pierre, additional, Husson, Thomas, additional, Olie, Emilie, additional, Gohier, Benedicte, additional, Sauvaget, Anne, additional, Gaillard, Raphael, additional, Richieri, Raphaelle, additional, Szekely, David, additional, Samalin, Ludovic, additional, Guillin, Olivier, additional, Moulier, Virginie, additional, El-Hage, Wissam, additional, Laurin, Andrew, additional, and Berkovitch, Lucie, additional

Published
2024
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4. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, Audebert-Bellanger, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noëlle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Dieux, Anne, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Fergelot, Patricia, additional, Fradin, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, Harzalla, Inès, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Le Guillou Horn, Xavier, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaëtan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godeliève, additional, Jean-Marçais, Nolwenn, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, Pasquier, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Pingault, Veronique, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quélin, Chloé, additional, Quemener-Redon, Sylvia, additional, Rama, Mélanie, additional, Rio, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, Saugier-Veber, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Touraine, Renaud, additional, Mau-Them, Frederic Tran, additional, Trimouille, Aurélien, additional, Van Gils, Julien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional

Published
2023
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5. Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

Author

Husson, Thomas, Lecoquierre, François, Cassinari, Kevin, Charbonnier, Camille, Quenez, Olivier, Goldenberg, Alice, Guerrot, Anne-Marie, Richard, Anne-Claire, Drouin-Garraud, Valérie, Brehin, Anne-Claire, Soleimani, Maryam, Taton, Romain, Rotharmel, Maud, Rosier, Antoine, Chambon, Pascal, Le Meur, Nathalie, Joly-Helas, Géraldine, Saugier-Veber, Pascale, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Frebourg, Thierry, Nicolas, Gael, Guillin, Olivier, and Campion, Dominique

Published
2020
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6. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

Author

Blackburn, Patrick R., primary, Ebstein, Frédéric, additional, Hsieh, Tzung-Chien, additional, Motta, Marialetizia, additional, Radio, Francesca Clementina, additional, Herkert, Johanna C., additional, Rinne, Tuula, additional, Thiffault, Isabelle, additional, Rapp, Michele, additional, Alders, Mariel, additional, Maas, Saskia, additional, Gerard, Bénédicte, additional, Smol, Thomas, additional, Vincent-Delorme, Catherine, additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Vincent, Marie, additional, Bachmann-Gagescu, Ruxandra, additional, Rauch, Anita, additional, Joset, Pascal, additional, Ferrero, Giovanni Battista, additional, Ciolfi, Andrea, additional, Husson, Thomas, additional, Guerrot, Anne-Marie, additional, Bacino, Carlos, additional, Macmurdo, Colleen, additional, Thompson, Stephanie S., additional, Rosenfeld, Jill A., additional, Faivre, Laurence, additional, Mau-Them, Frederic Tran, additional, Deb, Wallid, additional, Vignard, Virginie, additional, Agrawal, Pankaj B., additional, Madden, Jill A., additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Zech, Michael, additional, Prokisch, Holger, additional, Necpál, Ján, additional, Jech, Robert, additional, Winkelmann, Juliane, additional, Koprušáková, Monika Turčanová, additional, Konstantopoulou, Vassiliki, additional, Younce, John R., additional, Shinawi, Marwan, additional, Mighton, Chloe, additional, Fung, Charlotte, additional, Morel, Chantal, additional, Ellis, Jordan Lerner-, additional, DiTroia, Stephanie, additional, Barth, Magalie, additional, Bonneau, Dominique, additional, Krapels, Ingrid, additional, Stegmann, Sander, additional, Schoot, Vyne van der, additional, Brunet, Theresa, additional, Bußmann, Cornelia, additional, Mignot, Cyril, additional, Courtin, Thomas, additional, Ravelli, Claudia, additional, Keren, Boris, additional, Ziegler, Alban, additional, Hasadsri, Linda, additional, Pichurin, Pavel N., additional, Klee, Eric W., additional, Grand, Katheryn, additional, Sanchez-Lara, Pedro A., additional, Krüger, Elke, additional, Bézieau, Stéphane, additional, Klinkhammer, Hannah, additional, Krawitz, Peter Michael, additional, Eichler, Evan E., additional, Tartaglia, Marco, additional, Küry, Sébastien, additional, and Wang, Tianyun, additional

Published
2023
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7. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Author

Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau-Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal, Ellis, Jordan Lerner, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Sander, van der Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez-Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, and Wang, Tianyun

Subjects
Article
Abstract

PURPOSE: De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism. METHODS: Genetic data and detailed clinical records were collected via multi-center collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells. RESULTS: We assembled a cohort of 35 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 33 have loss-of-function (LoF) and two have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugates in vitro . Specifically, we show that cyclin E1 (CCNE1) and 4E-BP1 (EIF4EBP1), two prominent substrates of CUL3, fail to be targeted for proteasomal degradation in patient-derived cells. CONCLUSION: Our study further refines the clinical and mutational spectrum of CUL3 -associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism.

Published
2023

8. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Author

Blackburn, Patrick R; https://orcid.org/0000-0003-0658-1275, Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia; https://orcid.org/0000-0001-6592-910X, Radio, Francesca Clementina; https://orcid.org/0000-0003-1993-8018, Herkert, Johanna C; https://orcid.org/0000-0003-0461-9102, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gérard, Bénédicte, Smol, Thomas; https://orcid.org/0000-0002-0119-5896, Vincent-Delorme, Catherine, Cogné, Benjamin; https://orcid.org/0000-0002-5503-6292, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra; https://orcid.org/0000-0002-3571-5271, Rauch, Anita; https://orcid.org/0000-0003-2930-3163, Joset, Pascal; https://orcid.org/0000-0002-4349-9951, Ferrero, Giovanni Battista; https://orcid.org/0000-0002-3793-5788, Ciolfi, Andrea; https://orcid.org/0000-0002-6191-0978, Husson, Thomas; https://orcid.org/0000-0002-4088-5021, Guerrot, Anne-Marie, Bacino, Carlos; https://orcid.org/0000-0002-4342-5012, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A; https://orcid.org/0000-0001-5664-7987, Faivre, Laurence; https://orcid.org/0000-0001-9770-444X, Mau-Them, Frederic Tran; https://orcid.org/0000-0002-3795-9456, et al, Blackburn, Patrick R; https://orcid.org/0000-0003-0658-1275, Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia; https://orcid.org/0000-0001-6592-910X, Radio, Francesca Clementina; https://orcid.org/0000-0003-1993-8018, Herkert, Johanna C; https://orcid.org/0000-0003-0461-9102, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gérard, Bénédicte, Smol, Thomas; https://orcid.org/0000-0002-0119-5896, Vincent-Delorme, Catherine, Cogné, Benjamin; https://orcid.org/0000-0002-5503-6292, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra; https://orcid.org/0000-0002-3571-5271, Rauch, Anita; https://orcid.org/0000-0003-2930-3163, Joset, Pascal; https://orcid.org/0000-0002-4349-9951, Ferrero, Giovanni Battista; https://orcid.org/0000-0002-3793-5788, Ciolfi, Andrea; https://orcid.org/0000-0002-6191-0978, Husson, Thomas; https://orcid.org/0000-0002-4088-5021, Guerrot, Anne-Marie, Bacino, Carlos; https://orcid.org/0000-0002-4342-5012, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A; https://orcid.org/0000-0001-5664-7987, Faivre, Laurence; https://orcid.org/0000-0001-9770-444X, Mau-Them, Frederic Tran; https://orcid.org/0000-0002-3795-9456, and et al

Abstract

Purpose De novovariants inCUL3(Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants inCUL3,describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism.MethodsGenetic data and detailed clinical records were collected via multi-center collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells.ResultsWe assembled a cohort of 35 individuals with heterozygousCUL3variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 33 have loss-of-function (LoF) and two have missense variants.CUL3LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugatesin vitro. Specifically, we show that cyclin E1 (CCNE1) and 4E-BP1 (EIF4EBP1), two prominent substrates of CUL3, fail to be targeted for proteasomal degradation in patient-derived cells.ConclusionOur study further refines the clinical and mutational spectrum ofCUL3-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism.

Published
2023

10. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Author

Blackburn, Patrick R, Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gérard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A, Faivre, Laurence, Mau-Them, Frederic Tran, et al, and University of Zurich

Subjects
Genomic Medicine, 10039 Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, 10124 Institute of Molecular Life Sciences, Genetic Medicine
Published
2023
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11. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Levy, Michael A., primary, Relator, Raissa, additional, McConkey, Haley, additional, Pranckeviciene, Erinija, additional, Kerkhof, Jennifer, additional, Barat‐Houari, Mouna, additional, Bargiacchi, Sara, additional, Biamino, Elisa, additional, Palomares Bralo, María, additional, Cappuccio, Gerarda, additional, Ciolfi, Andrea, additional, Clarke, Angus, additional, DuPont, Barbara R., additional, Elting, Mariet W., additional, Faivre, Laurence, additional, Fee, Timothy, additional, Ferilli, Marco, additional, Fletcher, Robin S., additional, Cherick, Florian, additional, Foroutan, Aidin, additional, Friez, Michael J., additional, Gervasini, Cristina, additional, Haghshenas, Sadegheh, additional, Hilton, Benjamin A., additional, Jenkins, Zandra, additional, Kaur, Simranpreet, additional, Lewis, Suzanne, additional, Louie, Raymond J., additional, Maitz, Silvia, additional, Milani, Donatella, additional, Morgan, Angela T., additional, Oegema, Renske, additional, Østergaard, Elsebet, additional, Pallares, Nathalie R., additional, Piccione, Maria, additional, Plomp, Astrid S., additional, Poulton, Cathryn, additional, Reilly, Jack, additional, Rius, Rocio, additional, Robertson, Stephen, additional, Rooney, Kathleen, additional, Rousseau, Justine, additional, Santen, Gijs W. E., additional, Santos‐Simarro, Fernando, additional, Schijns, Josephine, additional, Squeo, Gabriella M., additional, John, Miya St, additional, Thauvin‐Robinet, Christel, additional, Traficante, Giovanna, additional, van der Sluijs, Pleuntje J., additional, Vergano, Samantha A., additional, Vos, Niels, additional, Walden, Kellie K., additional, Azmanov, Dimitar, additional, Balci, Tugce B., additional, Banka, Siddharth, additional, Gecz, Jozef, additional, Henneman, Peter, additional, Lee, Jennifer A., additional, Mannens, Marcel M. A. M., additional, Roscioli, Tony, additional, Siu, Victoria, additional, Amor, David J., additional, Baynam, Gareth, additional, Bend, Eric G., additional, Boycott, Kym, additional, Brunetti‐Pierri, Nicola, additional, Campeau, Philippe M., additional, Campion, Dominique, additional, Christodoulou, John, additional, Dyment, David, additional, Esber, Natacha, additional, Fahrner, Jill A., additional, Fleming, Mark D., additional, Genevieve, David, additional, Heron, Delphine, additional, Husson, Thomas, additional, Kernohan, Kristin D., additional, McNeill, Alisdair, additional, Menke, Leonie A., additional, Merla, Giuseppe, additional, Prontera, Paolo, additional, Rockman‐Greenberg, Cheryl, additional, Schwartz, Charles, additional, Skinner, Steven A., additional, Stevenson, Roger E., additional, Vincent, Marie, additional, Vitobello, Antonio, additional, Tartaglia, Marco, additional, Alders, Marielle, additional, Tedder, Matthew L., additional, and Sadikovic, Bekim, additional

Published
2022
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13. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim, Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., and Sadikovic, Bekim

Abstract

An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of disorder-specific and recurring genome-wide differentially methylated probes (DMPs) and regions (DMRs). The overall distribution of DMPs and DMRs across the majority of the neurodevelopmental genetic syndromes analyzed showed substantial enrichment in gene promoters and CpG islands, and under-representation of the more variable intergenic regions. Analysis showed significant enrichment of the DMPs and DMRs in gene pathways and processes related to neurodevelopment, including neurogenesis, synaptic signaling and synaptic transmission. This study expands beyond the diagnostic utility of DNA methylation episignatures by demonstrating correlation between the function of the mutated genes and the consequent genomic DNA methylation profiles as a key functional element in the molecular etiology of genetic neurodevelopmental disorders.

Published
2022

14. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Author

Genetica Klinische Genetica, Brain, Child Health, Levy, Michael A, Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, Sadikovic, Bekim, Genetica Klinische Genetica, Brain, Child Health, Levy, Michael A, Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R, Elting, Mariet W, Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S, Cherick, Florian, Foroutan, Aidin, Friez, Michael J, Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A, Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J, Maitz, Silvia, Milani, Donatella, Morgan, Angela T, Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Plomp, Astrid S, Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W E, Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J, Vergano, Samantha A, Vos, Niels, Walden, Kellie K, Azmanov, Dimitar, Balci, Tugce B, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A, Mannens, Marcel M A M, Roscioli, Tony, Siu, Victoria, Amor, David J, Baynam, Gareth, Bend, Eric G, Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M, Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A, Fleming, Mark D, Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D, McNeill, Alisdair, Menke, Leonie A, Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A, Stevenson, Roger E, Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L, and Sadikovic, Bekim

Published
2022

15. The priming effect of repetitive transcranial magnetic stimulation on clinical response to electroconvulsive therapy in treatment-resistant depression: a randomized, double-blind, sham-controlled study.

Author

Rothärmel, Maud, Quesada, Pierre, Husson, Thomas, Harika-Germaneau, Ghina, Nathou, Clément, Guehl, Julien, Dalmont, Marine, Opolczynski, Gaëlle, Miréa-Grivel, Iris, Millet, Bruno, Gérardin, Emmanuel, Compère, Vincent, Dollfus, Sonia, Jaafari, Nemat, Bénichou, Jacques, Thill, Caroline, Guillin, Olivier, and Moulier, Virginie

Subjects
RESEARCH, PREFRONTAL cortex, TRANSCRANIAL magnetic stimulation, ELECTROCONVULSIVE therapy, TREATMENT effectiveness, RANDOMIZED controlled trials, MENTAL depression, BLIND experiment, DESCRIPTIVE statistics, QUESTIONNAIRES, RESEARCH funding, COMBINED modality therapy, STATISTICAL sampling, COGNITIVE testing, EARLY medical intervention
Abstract

Background: Electroconvulsive therapy (ECT) is one of the most effective treatments for treatment-resistant depression (TRD). However, due to response delay and cognitive impairment, ECT remains an imperfect treatment. Compared to ECT, repetitive transcranial magnetic stimulation (rTMS) is less effective at treating severe depression, but has the advantage of being quick, easy to use, and producing almost no side effects. In this study, our objective was to assess the priming effect of rTMS sessions before ECT on clinical response in patients with TRD. Methods: In this multicenter, randomized, double-blind, sham-controlled trial, 56 patients with TRD were assigned to active or sham rTMS before ECT treatment. Five sessions of active/sham neuronavigated rTMS were administered over the left dorsolateral prefrontal cortex (20 Hz, 90% resting motor threshold, 20 2 s trains with 60-s intervals, 800 pulses/session) before ECT (which was active for all patients) started. Any relative improvements were then compared between both groups after five ECT sessions, in order to assess the early response to treatment. Results: After ECT, the active rTMS group exhibited a significantly greater relative improvement than the sham group [43.4% (28.6%) v. 25.4% (17.2%)]. The responder rate in the active group was at least three times higher. Cognitive complaints, which were assessed using the Cognitive Failures Questionnaire, were higher in the sham rTMS group compared to the active rTMS group, but this difference was not corroborated by cognitive tests. Conclusions: rTMS could be used to enhance the efficacy of ECT in patients with TRD. ClinicalTrials.gov: NCT02830399. [ABSTRACT FROM AUTHOR]

Published
2023
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16. The priming effect of repetitive transcranial magnetic stimulation on clinical response to electroconvulsive therapy in treatment-resistant depression: a randomized, double-blind, sham-controlled study

Author

Rothärmel, Maud, primary, Quesada, Pierre, additional, Husson, Thomas, additional, Harika-Germaneau, Ghina, additional, Nathou, Clément, additional, Guehl, Julien, additional, Dalmont, Marine, additional, Opolczynski, Gaëlle, additional, Miréa-Grivel, Iris, additional, Millet, Bruno, additional, Gérardin, Emmanuel, additional, Compère, Vincent, additional, Dollfus, Sonia, additional, Jaafari, Nemat, additional, Bénichou, Jacques, additional, Thill, Caroline, additional, Guillin, Olivier, additional, and Moulier, Virginie, additional

Published
2021
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17. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D, van Gassen, Koen, Steinraths, Michelle, Rice, Jennifer, Roeder, Elizabeth R, Littlejohn, Rebecca O, Srour, Myriam, Sebire, Guillaume, Accogli, Andrea, Héron, Delphine, Heide, Solveig, Nava, Caroline, Depienne, Christel, Larson, Austin, Niyazov, Dmitriy, Azage, Meron, Hoganson, George, Burton, Jennifer, Rush, Eric T, Jenkins, Janda L, Saunders, Carol J, Thiffault, Isabelle, Alaimo, Joseph T, Fleischer, Julie, Groepper, Daniel, Gripp, Karen W, Chung, Wendy K, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Chilton, Ilana, Okur, Volkan, Vitiello, Giuseppina, Selicorni, Angelo, Mariani, Milena, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lichtenbelt, Klaske D, van Gassen, Koen, Steinraths, Michelle, Rice, Jennifer, Roeder, Elizabeth R, Littlejohn, Rebecca O, Srour, Myriam, Sebire, Guillaume, Accogli, Andrea, Héron, Delphine, Heide, Solveig, Nava, Caroline, Depienne, Christel, Larson, Austin, Niyazov, Dmitriy, Azage, Meron, Hoganson, George, Burton, Jennifer, Rush, Eric T, Jenkins, Janda L, Saunders, Carol J, Thiffault, Isabelle, Alaimo, Joseph T, Fleischer, Julie, Groepper, Daniel, Gripp, Karen W, and Chung, Wendy K

Published
2020

18. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Author

Chilton, Ilana, primary, Okur, Volkan, additional, Vitiello, Giuseppina, additional, Selicorni, Angelo, additional, Mariani, Milena, additional, Goldenberg, Alice, additional, Husson, Thomas, additional, Campion, Dominique, additional, Lichtenbelt, Klaske D., additional, Gassen, Koen, additional, Steinraths, Michelle, additional, Rice, Jennifer, additional, Roeder, Elizabeth R., additional, Littlejohn, Rebecca O., additional, Srour, Myriam, additional, Sebire, Guillaume, additional, Accogli, Andrea, additional, Héron, Delphine, additional, Heide, Solveig, additional, Nava, Caroline, additional, Depienne, Christel, additional, Larson, Austin, additional, Niyazov, Dmitriy, additional, Azage, Meron, additional, Hoganson, George, additional, Burton, Jennifer, additional, Rush, Eric T., additional, Jenkins, Janda L., additional, Saunders, Carol J., additional, Thiffault, Isabelle, additional, Alaimo, Joseph T., additional, Fleischer, Julie, additional, Groepper, Daniel, additional, Gripp, Karen W., additional, and Chung, Wendy K., additional

Published
2020
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19. Étude de la corrélation entre sévérité d’un état dépressif caractérisé et durée d’hospitalisation

Author

Husson, Thomas, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), and Sadeq Haouzir

Subjects
Épidémiologie, Hôpitaux -- Durée du séjour, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Psychiatrie, Épisode dépressif caractérisé, Durée moyenne de séjour
Abstract

Il n’existe pas de recommandation quant à la durée optimale d’hospitalisation des patients en psychiatrie. Celle-ci est donc laissée à l’appréciation du clinicien. Ainsi, la durée moyenne de séjour des patients en hôpital psychiatrique est extrêmement variable tant à l’échelle internationale qu’au sein d’une même institution. A l’échelle du patient les facteurs cliniques, anamnestiques et socio-démographiques associés à la durée moyenne de séjour n’expliquent qu’une part minoritaire de cette variabilité. L’effet de ces variables est minimisé par l’hétérogénéité des paradigmes de recherche et des caractéristiques des patients étudiés. Le recrutement de populations de patients homogènes avec des critères d’inclusion comprenant i) un cadre diagnostic unique, ii) un bassin de population limité et iii) une seule institution hospitalière est nécessaire pour optimiser la puissance de ces études. Objectifs : Etude des facteurs corrélant avec la durée d’hospitalisation chez des patients souffrant d’épisode dépressif caractérisé au sein du pôle Rouen rive-droite du Centre Hospitalier du Rouvray ; Sévérité clinique mesuré par l’Hamilton Depression rating scale comme critère de jugement principal. Matériel & Méthodes Les patients présentant un épisode dépressif caractérisé selon les critères du DSM-IV-TR ont été inclus dans les 7 jours suivant leur hospitalisation. La passation d’un questionnaire standardisé, conçu à l’aide d’une revue de la littérature, a permis le recueil des données socio-démographiques, cliniques et anamnestiques pertinentes. La sévérité de l’épisode dépressif a été évaluée à l’aide de l’Hamilton Depression rating scale. Résultats & Discussion Au total, 72 patients ont été inclus dans cette étude avec une durée moyenne de séjour de 20,8 jours. Ce travail nous a permis de démontrer, pour la première fois de manière prospective, que la sévérité de l’épisode est significativement associée à la durée d’hospitalisation chez nos patients. Deux autres variables sont également associées à la durée d’hospitalisation : l’âge et la présence d’un emploi, ce qui était attendu au vu des données de la littérature. Conclusion : Nos critères d’inclusions visant à recruter une population homogène de patients a permis de compenser la taille modeste de l’échantillon. La répétition de ce modèle d’étude sur des populations et dans des contextes d’études variés permettra une meilleure compréhension de la variabilité de la durée moyenne de séjour en psychiatrie.

Published
2019

20. Twenty for 2020.

Author

HUSSON, THOMAS

Subjects
VIRTUAL reality equipment, CUSTOMER lifetime value
Published
2020

21. Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

Author

Boscher, Emmanuelle, Husson, Thomas, Quenez, Olivier, Laquerrière, Annie, Marguet, Florent, Cassinari, Kevin, Wallon, David, Martinaud, Olivier, Charbonnier, Camille, Nicolas, Gaël, Deleuze, Jean-François, Boland, Anne, Lathrop, Mark, Frébourg, Thierry, Campion, Dominique, Hébert, Sébastien S., Rovelet-Lecrux, Anne, and FREX Consortium

Subjects
*DNA copy number variations, *ALZHEIMER'S disease risk factors
Abstract

Early-onset Alzheimer's disease (EOAD) accounts for 5-10% of all AD cases, with a heritability ranging between 92% to 100%. With the exception of rare mutations in APP, PSEN1, and PSEN2 genes causing autosomal dominant EOAD, little is known about the genetic factors underlying most of the EOAD cases. In this study, we hypothesized that copy number variations (CNVs) in microRNA (miR) genes could contribute to risk for EOAD. miRs are short non-coding RNAs previously implicated in the regulation of AD-related genes and phenotypes. Using whole exome sequencing, we screened a series of 546 EOAD patients negative for autosomal dominant EOAD mutations and 597 controls. We identified 86 CNVs in miR genes of which 31 were exclusive to EOAD cases, including a duplication of the MIR138-2 locus. In functional studies in human cultured cells, we could demonstrate that miR-138 overexpression leads to higher Aβ production as well as tau phosphorylation, both implicated in AD pathophysiology. These changes were mediated in part by GSK-3β and FERMT2, a potential risk factor for AD. Additional disease-related genes were also prone to miR-138 regulation including APP and BACE1. This study suggests that increased gene dosage of MIR138-2 could contribute to risk for EOAD by regulating different biological pathways implicated in amyloid and tau metabolism. Additional studies are now required to better understand the role of miR-CNVs in EOAD. [ABSTRACT FROM AUTHOR]

Published
2019
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22. ANALYST SPEAK: Mobile operators must educate content users

Author

Husson, Thomas

Subjects
Company marketing practices, Wireless telecommunications service, Cellular telephone services industry -- Services -- Industry forecasts -- Marketing
Abstract

Still far behind SMS revenues, mobile content is dominated by ringtones and, to a lesser extent, games. In a traditionally fragmented market, pure mobile players have managed to generate significant […]

Published
2006

23. ANALYST SPEAK: Mobile Internet needs a few more changes

Author

Husson, Thomas

Subjects
Wireless Internet access, Wireless Internet access -- Surveys, Consumers -- Surveys
Abstract

Much has changed since the early days of WAP. From 2002 to 2003, mobile operators repositioned their portals to market services and regrouped data activities to boost average revenue per […]

Published
2005

25. Beyond the hype, AI will spark a marketing renaissance.

Author

Husson, Thomas

Subjects
RENAISSANCE, ARTIFICIAL intelligence, ECONOMIC history
Abstract

Artificial intelligence will scale existing data-driven marketing approaches and give modern CMOs the ability to personalize branded experiences in real time at scale. [ABSTRACT FROM AUTHOR]

Published
2018

27. Engage customers with mobile wallet marketing: What global players can learn from Asia's digital leaders.

Author

Xiaofeng Wang, Giron, Frederic, Husson, Thomas, Morgan, Jacob, Deng, Diane, and Nagel, Bill

Subjects
ELECTRONIC funds transfers, MOBILE communication systems, MOBILE apps, COMPETITIVE advantage in business
Abstract

The article discusses the authors' insights on the evolution of mobile wallet marketing globally. They relate the development of mobile wallets by AliPay.com Co. Ltd. and WeChat into rich customer engagement platforms, offering new opportunities for mobile marketers. The authors emphasize how Alipay and WeChat engage customers to their mobile wallet services.

Published
2017

28. Winter's March.

Author

Husson, Thomas

Subjects
WINTER'S Monarch (Poem), HUSSON, Thomas
Abstract

Presents the poem "Winter's Monarch," by Thomas Husson. First Line: A troop of sparrows, raised off; Last Line: the small footprints in step behind.

Published
2005

29. Questions at Cushman's.

Author

Husson, Thomas

Subjects
QUESTIONS at Cushman's (Poem), HUSSON, Thomas
Abstract

Presents the poem "Questions at Cushman's," by Thomas Husson. First Line: Sunday morning, our coats buttoned to the collar, Last Line: that ink as blue as the berries in the box.

Published
2005

30. Yellowstone.

Author

Husson, Thomas

Subjects
YELLOWSTONE (Poem), HUSSON, Thomas
Abstract

Presents the poem "Yellowstone," by Thomas Husson. First Line: Here by accident fighting boredom, I find; Last Line: risen in song; stones to those who died.

Published
2005

31. Recommendations for mobile wallet adoption.

Author

Xiaofeng Wang, Giron, Frederic, Husson, Thomas, Morgan, Jacob, Deng, Diane, and Nagel, Bill

Subjects
MOBILE communication systems, MOBILE commerce
Abstract

The article offers tips for mobile wallet adoption which include building a localized strategy for mobile wallets, testing new technologies and innovations, and using mobile wallets to enhance cross-border travel and shopping experiences.

Published
2017

32. Dusk.

Author

Husson, Thomas

Abstract

Dusk Right before darkness slips on the field, I walk the fence line, split apples in hand, clicking my tongue a familiar sound the horses recognize. The heads move higher, deliberate steps thud earth close to the wire, their nostrils quiver over the scent of Empire apples, still ready to bolt at indiscretion, despite the offer. The setting sun sends a stream of light, red as apple skins circling white flesh, dark seeds couched in tough shell casings snap between the horses' flat teeth, the long concave faces scoop the light. [ABSTRACT FROM AUTHOR]

Published
2011

33. Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Author

Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, and Wang T

Abstract

Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism., Methods: Genetic data and detailed clinical records were collected via multicenter collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells., Results: We assembled a cohort of 37 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 35 have loss-of-function (LoF) and 2 have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugates in vitro. Notably, we show that 4E-BP1 (EIF4EBP1), a prominent substrate of CUL3, fails to be targeted for proteasomal degradation in patient-derived cells., Interpretation: Our study further refines the clinical and mutational spectrum of CUL3-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism. ANN NEUROL 2024., (© 2024 American Neurological Association.)

Published
2024
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34. Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Author

Thomas H, Alix T, Renard É, Renaud M, Wourms J, Zuily S, Leheup B, Geneviève D, Dreumont N, Schmitt E, Bronner M, Muller M, Divoux M, Wandzel M, Ravel JM, Dexheimer M, Becker A, Roth V, Willems M, Coubes C, Vieville G, Devillard F, Schaefer É, Baer S, Piton A, Gérard B, Vincent M, Nizon M, Cogné B, Ruaud L, Couque N, Putoux A, Edery P, Lesca G, Chatron N, Till M, Faivre L, Tran-Mau-Them F, Alessandri JL, Lebrun M, Quélin C, Odent S, Dubourg C, David V, Faoucher M, Mignot C, Keren B, Pisan É, Afenjar A, Julia S, Bieth É, Banneau G, Goldenberg A, Husson T, Campion D, Lecoquierre F, Nicolas G, Charbonnier C, De Saint Martin A, Naudion S, Degoutin M, Rondeau S, Michot C, Cormier-Daire V, Oussalah A, Pourié C, Lambert L, and Bonnet C

Subjects
Humans, Male, Female, France epidemiology, Child, Child, Preschool, Adolescent, Germ-Line Mutation genetics, Adult, Phenotype, Young Adult, Growth Disorders genetics, Growth Disorders pathology, Infant, DNA Methyltransferase 3A, Intellectual Disability genetics, Intellectual Disability pathology, DNA (Cytosine-5-)-Methyltransferases genetics
Abstract

Background: Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( DNMT3A )-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual disability and distinctive facial features and is the consequence of germline loss-of-function variants in DNMT3A , which encodes a DNA methyltransferase involved in epigenetic regulation. Somatic variants of DNMT3A are frequently observed in haematological malignancies, including acute myeloid leukaemia (AML). To date, 100 individuals with TBRS with de novo germline variants have been described. We aimed to further characterise this disorder clinically and at the molecular level in a nationwide series of 24 French patients and to investigate the correlation between the severity of intellectual disability and the type of variant., Methods: We collected genetic and medical information from 24 individuals with TBRS using a questionnaire released through the French National AnDDI-Rares Network., Results: Here, we describe the first nationwide French cohort of 24 individuals with germline likely pathogenic/pathogenic variants in DNMT3A , including 17 novel variants. We confirmed that the main phenotypic features were intellectual disability (100% of individuals), distinctive facial features (96%) and overgrowth (87%). We highlighted novel clinical features, such as hypertrichosis, and further described the neurological features and EEG results., Conclusion: This study of a nationwide cohort of individuals with TBRS confirms previously published data and provides additional information and clarifies clinical features to facilitate diagnosis and improve care. This study adds value to the growing body of knowledge on TBRS and broadens its clinical and molecular spectrum., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2024
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35. Esketamine-induced post-traumatic stress disorder flashbacks during treatment-resistant depression indication: is it just a side effect?

Author

Rothärmel M, Mekaoui L, Kazour F, Herrero M, Beetz-Lobono EM, Lengvenyte A, Holtzmann J, Raynaud P, Cuenca M, Bulteau S, de Maricourt P, Husson T, Olié E, Gohier B, Sauvaget A, Gaillard R, Richieri R, Szekely D, Samalin L, Guillin O, Moulier V, El-Hage W, Laurin A, and Berkovitch L

Abstract

Background: Posttraumatic stress disorder (PTSD) is a severe and frequent affection that is highly comorbid to major depressive disorder. Comorbid PTSD and depression are usually treatment-resistant, with a high risk of functional impairment and suicide. Esketamine nasal spray is a recent validated treatment for treatment-resistant depression (TRD), but its efficacy on comorbid TRD-PTSD remains insufficiently documented. In particular, flashbacks can occur during esketamine administration and their influence on clinical outcomes is unknown., Objectives: Our main objective was to describe esketamine-induced traumatic flashbacks and their impact on clinical trajectories within a sample of patients with comorbid TRD-PTSD., Methods: We retrospectively collected clinical data of patients receiving esketamine nasal spray for TRD with comorbid PTSD who experienced at least one flashback of their trauma during esketamine sessions across 11 psychiatric departments., Results: Between February 2020 and March 2023, 22 adult patients with TRD met inclusion criteria. In sixteen patients (72.7%) flashbacks disappeared as the sessions progressed. In six patients (27.3%), esketamine treatment was stopped because of persistent flashbacks. When esketamine was continued, clinical response was observed both for depression and PTSD (depression response rate: 45.5% and remission rate: 22.7%; PTSD response rate: 45.5% and remission: 18.2%)., Limitations: The retrospective design of the study and the absence of a comparator group are the main limitations of our study., Conclusions: Our results suggest that the occurrence of esketamine-induced traumatic flashbacks does not hinder clinical response. On the contrary, when managed appropriately and combined with targeted psychotherapy, it could even contribute to positive outcomes., Competing Interests: Conflict of interest Most of the authors of this article received honoraria or consulting fees from Janssen-Cilag (MR, LM, MH, JH, SB, MD, EO, BG, AS, RG, RR, DZ, LS, OG, AL, LB) with no financial or other relationship relevant to the subject of this article.

Published
2024
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36. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.

Author

Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, and Wang T

Abstract

Purpose: De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare variants in CUL3, describe the genotype-phenotype correlation, and investigate the underlying pathogenic mechanism., Methods: Genetic data and detailed clinical records were collected via multi-center collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells., Results: We assembled a cohort of 35 individuals with heterozygous CUL3 variants presenting a syndromic NDD characterized by intellectual disability with or without autistic features. Of these, 33 have loss-of-function (LoF) and two have missense variants. CUL3 LoF variants in patients may affect protein stability leading to perturbations in protein homeostasis, as evidenced by decreased ubiquitin-protein conjugates in vitro . Specifically, we show that cyclin E1 (CCNE1) and 4E-BP1 (EIF4EBP1), two prominent substrates of CUL3, fail to be targeted for proteasomal degradation in patient-derived cells., Conclusion: Our study further refines the clinical and mutational spectrum of CUL3 -associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism.

Published
2023
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