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2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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3. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Author

Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, and Depienne, Christel

Subjects
Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Clinical Research, Rare Diseases, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Haploinsufficiency, Humans, Infant, Intellectual Disability, Language Development Disorders, Male, Mutation, Missense, Neurodevelopmental Disorders, Pedigree, Phenotype, SOXD Transcription Factors, Young Adult, autism, developmental delay, intellectual disability, epilepsy, missense variants, Deciphering Developmental DisorderStudy, missense variants., Clinical Sciences, Genetics & Heredity
Abstract

PurposeLamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.MethodsClinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.ResultsMicrodeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.ConclusionsThis study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.

Published
2020

5. Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy

Author

Marey Isabelle, Fressart Véronique, Rambaud Caroline, Fornes Paul, Martin Laurent, Grotto Sarah, Alembik Yves, Gorka Hervé, Millat Gilles, Gandjbakhch Estelle, Bordet Céline, Grandmaison Geoffroy Lorin de la, Richard Pascale, and Charron Philippe

Subjects
sudden death, cardiac death, cardiomyopathy, post-mortem, genetic testing, Medicine
Abstract

Post-mortem genetic analyses may help to elucidate the cause of cardiac death. The added value is however unclear when a cardiac disease is already suspected or affirmed. Our aim was to study the feasibility and medical impact of post-mortem genetic analyses in suspected cardiomyopathy. We studied 35 patients with cardiac death and suspected cardiomyopathy based on autopsy or clinical data. After targeted sequencing, we identified 15 causal variants in 15 patients (yield 43%) in sarcomeric (n = 8), desmosomal (n = 3), lamin A/C (n = 3) and transthyretin (n = 1) genes. The results had various impacts on families, i.e. allowed predictive genetic testing in relatives (15 families), planned early therapeutics based on the specific underlying gene (5 families), rectified the suspected cardiomyopathy subtype (2 families), assessed the genetic origin of cardiomyopathy that usually has an acquired cause (1 family), assessed the diagnosis in a patient with uncertain borderline cardiomyopathy (1 family), reassured the siblings because of a de novo mutation (2 families) and allowed prenatal testing (1 family). Our findings suggest that post-mortem molecular testing should be included in the strategy of family care after cardiac death and suspected cardiomyopathy, since genetic findings provide additional information useful for relatives, which are beyond conventional autopsy.

Published
2020
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6. Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

Author

Ruault, Valentin, Burger, Pauline, Gradels‐Hauguel, Johanna, Ruiz, Nathalie, Jamra, Rami Abou, Afenjar, Alexandra, Alembik, Yves, Alessandri, Jean‐Luc, Arpin, Stéphanie, Barcia, Giulia, Bendová, Šárka, Bruel, Ange‐Line, Charles, Perrine, Chatron, Nicolas, Chopra, Maya, Conrad, Solène, Daire, Valérie Cormier, Cospain, Auriane, Coubes, Christine, and Coursimault, Juliette

Subjects
CAREGIVERS, PHYSICIANS, SLEEP interruptions, ATTENTION-deficit hyperactivity disorder, SLEEP disorders
Abstract

Introduction and Methods: We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. Results: These two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age, and age at first words. Discussion: Each of the two datasets provides complementary knowledge. We confirmed that symptoms are similar to those in the literature and provides more details on feeding difficulties. Caregivers considered that the symptom attention‐deficit/hyperactivity disorder were most worrisome. Both series also reported sleep disturbance. Recently, anxiety has been reported in individuals with DDX3X variants. We strongly suggest that attention‐deficit/hyperactivity disorder, anxiety, and sleep disorders need to be treated. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

Author

Geneviève, David, primary, Ruault, Valentin, additional, Burger, Pauline, additional, Gradels-Hauguel, Johanna, additional, Ruiz-Pallares, Nathalie, additional, Association, Xtraordinaire, additional, Jamra, Rami Abou, additional, Afenjar, Alexandra, additional, Alembik, Yves, additional, Alessandri, Jean-Luc, additional, Stéphanie, Arpin, additional, Barcia, Giulia, additional, Bendová, Šárka, additional, Bruel, Ange-Line, additional, Charles, Perrine, additional, Chatron, Nicolas, additional, Chopra, Maya, additional, Conrad, Solène, additional, Cormier-Daire, Valérie, additional, Cospain, Auriane, additional, Coubes, Christine, additional, Coursimault, Juliette, additional, Delahaye-Duriez, Andrée, additional, Doco-Fenzy, Martine, additional, Dufour, William, additional, Durand, Benjamin, additional, ENGEL, Camille, additional, Faivre, Laurence, additional, Ferroul, Fanny, additional, FRADIN, Mélanie, additional, Frenkiel, Hélène, additional, Fusco, Carlo, additional, Garavelli, Livia, additional, Garde, Aurore, additional, Gérard, Bénédicte, additional, Germanaud, David, additional, Goujon, Louise, additional, Gouronc, Aurélie, additional, Ginglinger, Emmanuelle, additional, Goldenberg, Alice, additional, Hancarova, Miroslava, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Marçais, Nolwenn Jean, additional, Keren, Boris, additional, Koch-Hogrebe, Margarete, additional, Kuentz, Paul, additional, Lamure, Victoria, additional, Lebre, Anne-Sophie, additional, Lecoquierre, François, additional, Lehman, Natacha, additional, Lesca, Gaetan, additional, Lyonnet, Stanislas, additional, Martin, Delphine, additional, Mignot, Cyril, additional, Neuhann, Teresa, additional, Nicolas, Gaël, additional, Nizon, Mathilde, additional, Petit, Florence, additional, Philippe, Christophe, additional, Piton, Amélie, additional, Pollazzon, Marzia, additional, Prchalova, Darina, additional, Putoux, Audrey, additional, RIO, Marlène, additional, Rondeau, Sophie, additional, Rossi, Massimiliano, additional, Sabbagh, Quentin, additional, Saugier-Veber, Pascale, additional, Schmetz, Ariane, additional, Steffann, Julie, additional, Thauvin-Robinet, Christel, additional, Toutain, Annick, additional, Tran-Mau-Them, Frédéric, additional, Trimarchi, Gabriele, additional, Vincent, Marie, additional, Vlckova, Marketa, additional, Wieczorek, Dagmar, additional, Willems, Marjolaine, additional, yauy, kevin, additional, Zelinová, Michaela, additional, Ziegler, Alban, additional, Chaumette, Boris, additional, Sadikovic, Bekim, additional, and Mandel, Jean-Louis, additional

Published
2023
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13. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Author

Isidor, Bertrand, primary, Ebstein, Frédéric, additional, Hurst, Anna, additional, Vincent, Marie, additional, Bader, Ingrid, additional, Rudy, Natasha L., additional, Cogne, Benjamin, additional, Mayr, Johannes, additional, Brehm, Anja, additional, Bupp, Caleb, additional, Warren, Kathryn, additional, Bacino, Carlos A., additional, Gerard, Amanda, additional, Ranells, Judith D., additional, Metcalfe, Kay A., additional, van Bever, Yolande, additional, Jiang, Yong-Hui, additional, Mendelssohn, Bryce A., additional, Cope, Heidi, additional, Rosenfeld, Jill A., additional, Blackburn, Patrick R., additional, Goodenberger, McKinsey L., additional, Kearney, Hutton M., additional, Kennedy, Joanna, additional, Scurr, Ingrid, additional, Szczaluba, Krzysztof, additional, Ploski, Rafal, additional, de Saint Martin, Anne, additional, Alembik, Yves, additional, Piton, Amélie, additional, Bruel, Ange-Line, additional, Thauvin-Robinet, Christel, additional, Strong, Alanna, additional, Diderich, Karin E.M., additional, Bourgeois, Dominique, additional, Dahan, Karin, additional, Vignard, Virginie, additional, Bonneau, Dominique, additional, Colin, Estelle, additional, Barth, Magalie, additional, Camby, Caroline, additional, Baujat, Geneviève, additional, Briceño, Ignacio, additional, Gómez, Alberto, additional, Deb, Wallid, additional, Conrad, Solène, additional, Besnard, Thomas, additional, Bézieau, Stéphane, additional, Krüger, Elke, additional, Küry, Sébastien, additional, and Stankiewicz, PaweƗ, additional

Published
2022
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15. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Author

Schalk, Audrey, primary, Cousin, Margot A, additional, Dsouza, Nikita R, additional, Challman, Thomas D, additional, Wain, Karen E, additional, Powis, Zoe, additional, Minks, Kelly, additional, Trimouille, Aurélien, additional, Lasseaux, Eulalie, additional, Lacombe, Didier, additional, Angelini, Chloé, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Spataro, Nino, additional, Ruiz, Anna, additional, Gabau, Elizabeth, additional, Stolerman, Elliot, additional, Washington, Camerun, additional, Louie, Ray, additional, Lanpher, Brendan C, additional, Kemppainen, Jennifer L, additional, Innes, Micheil, additional, Kooy, Frank, additional, Meuwissen, Marije, additional, Goldenberg, Alice, additional, Lecoquierre, Francois, additional, Vera, Gabriella, additional, Diderich, Karin E M, additional, Sheidley, Beth, additional, El Achkar, Christelle Moufawad, additional, Park, Meredith, additional, Hamdan, Fadi F, additional, Michaud, Jacques L, additional, Lewis, Ann J, additional, Zweier, Christiane, additional, Reis, André, additional, Wagner, Matias, additional, Weigand, Heike, additional, Journel, Hubert, additional, Keren, Boris, additional, Passemard, Sandrine, additional, Mignot, Cyril, additional, van Gassen, Koen, additional, Brilstra, Eva H, additional, Itzikowitz, Gina, additional, O'Heir, Emily, additional, Allen, Jake, additional, Donald, Kirsten A, additional, Korf, Bruce Richard, additional, Skelton, Tammi, additional, Thompson, Michelle, additional, Robin, Nathaniel H, additional, Rudy, Natasha L, additional, Dobyns, William B, additional, Foss, Kimberly, additional, Zarate, Yuri Alexander, additional, Bosanko, Katherine A, additional, Alembik, Yves, additional, Durand, Benjamin, additional, Tran Mau-them, Frederic, additional, Ranza, Emmanuelle, additional, Blanc, Xavier, additional, Antonarakis, Stylianos E, additional, McWalter, Kirsty, additional, Torti, Erin, additional, Millan, Francisca, additional, Dameron, Amy, additional, Tokita, Mari, additional, Zimmermann, Michael T, additional, Klee, Eric W, additional, Piton, Amelie, additional, and Gerard, Benedicte, additional

Published
2021
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16. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Author

Prasad, Megana K, Geoffroy, Véronique, Vicaire, Serge, Jost, Bernard, Dumas, Michael, Le Gras, Stéphanie, Switala, Marzena, Gasse, Barbara, Laugel-Haushalter, Virginie, Paschaki, Marie, Leheup, Bruno, Droz, Dominique, Dalstein, Amelie, Loing, Adeline, Grollemund, Bruno, Muller-Bolla, Michèle, Lopez-Cazaux, Séréna, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Beal, Tiphaine, Kaiser, Anne-Sophie, Moog, Ute, Richard, Béatrice, Morrier, Jean-Jacques, Duprez, Jean-Pierre, Odent, Sylvie, Bailleul-Forestier, Isabelle, Rousset, Monique Marie, Merametdijan, Laure, Toutain, Annick, Joseph, Clara, Giuliano, Fabienne, Dahlet, Jean-Christophe, Courval, Aymeric, El Alloussi, Mustapha, Laouina, Samir, Soskin, Sylvie, Guffon, Nathalie, Dieux, Anne, Doray, Bérénice, Feierabend, Stephanie, Ginglinger, Emmanuelle, Fournier, Benjamin, de la Dure Molla, Muriel, Alembik, Yves, Tardieu, Corinne, Clauss, François, Berdal, Ariane, Stoetzel, Corinne, Manière, Marie Cécile, Dollfus, Hélène, and Bloch-Zupan, Agnès

Published
2016
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18. Severe Phenotype in Patients with Large Deletions of NF1

Author

Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Coeslier, Anne Dieux, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Network, members of the NF France, Wolkenstein, Pierre, and Pasmant, Eric

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, cardiovascular abnormalities, dysmorphism, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, NF1 deletion, genotype–phenotype correlation, skeletal abnormalities, neurofibromatosis type 1, eye diseases, nervous system diseases, NF1, neurofibromas, NFs, MPNSTs, learning disabilities, malignant peripheral nerve sheath tumors, tumor predisposition, neoplasms, RC254-282
Abstract

Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehensive descriptions of large cohorts are still missing to fully characterize this contiguous gene syndrome. NF1-deleted patients were enrolled and phenotypically characterized with a standardized questionnaire between 2005 and 2020 from a large French NF1 cohort. Statistical analyses for main NF1-associated symptoms were performed versus an NF1 reference population. A deletion of the NF1 gene was detected in 4% (139/3479) of molecularly confirmed NF1 index cases. The median age of the group at clinical investigations was 21 years old. A comprehensive clinical assessment showed that 93% (116/126) of NF1-deleted patients fulfilled the NIH criteria for NF1. More than half had café-au-lait spots, skinfold freckling, Lisch nodules, neurofibromas, neurological abnormalities, and cognitive impairment or learning disabilities. Comparison with previously described “classic” NF1 cohorts showed a significantly higher proportion of symptomatic spinal neurofibromas, dysmorphism, learning disabilities, malignancies, and skeletal and cardiovascular abnormalities in the NF1-deleted group. We described the largest NF1-deleted cohort to date and clarified the more severe phenotype observed in these patients.

Published
2021

19. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Author

Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, and Bloch-Zupan, Agnès

Published
2015
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20. Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion

Author

Chatron, Nicolas, Haddad, Véronique, Andrieux, Joris, Désir, Julie, Boute, Odile, Dieux, Anne, Baumann, Clarisse, Drunat, Séverine, Gérard, Marion, Bonnet, Céline, Leheup, Bruno, Till, Marianne, Rossi, Massimiliano, Flori, Elisabeth, Alembik, Yves, Stewart, Helen, McParland, Joanna, Bernardini, Laura, Castelluccio, Pia, Roos, Laura, Tümer, Zeynep, Fagan, Kerry, Hackett, Anna, Bain, Nicole, van Haeringen, Arie, Ruivenkamp, Claudia, Benzacken, Brigitte, Sanlaville, Damien, Edery, Patrick, Aboura, Azzedine, and Schluth-Bolard, Caroline

Published
2015
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23. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Author

Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, and Piton, Amélie

Published
2014
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24. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Author

Ziegler, Alban, primary, Duclaux-Loras, Rémi, additional, Revenu, Céline, additional, Charbit-Henrion, Fabienne, additional, Begue, Bernadette, additional, Duroure, Karine, additional, Grimaud, Linda, additional, Guihot, Anne Laure, additional, Desquiret-Dumas, Valérie, additional, Zarhrate, Mohammed, additional, Cagnard, Nicolas, additional, Mas, Emmanuel, additional, Breton, Anne, additional, Edouard, Thomas, additional, Billon, Clarisse, additional, Frank, Michael, additional, Colin, Estelle, additional, Lenaers, Guy, additional, Henrion, Daniel, additional, Lyonnet, Stanislas, additional, Faivre, Laurence, additional, Alembik, Yves, additional, Philippe, Anaïs, additional, Moulin, Bruno, additional, Reinstein, Eyal, additional, Tzur, Shay, additional, Attali, Ruben, additional, McGillivray, George, additional, White, Susan M., additional, Gallacher, Lyndon, additional, Kutsche, Kerstin, additional, Schneeberger, Pauline, additional, Girisha, Katta M., additional, Nayak, Shalini S., additional, Pais, Lynn, additional, Maroofian, Reza, additional, Rad, Aboulfazl, additional, Vona, Barbara, additional, Karimiani, Ehsan Ghayoor, additional, Lekszas, Caroline, additional, Haaf, Thomas, additional, Martin, Ludovic, additional, Ruemmele, Frank, additional, Bonneau, Dominique, additional, Cerf-Bensussan, Nadine, additional, Del Bene, Filippo, additional, and Parlato, Marianna, additional

Published
2021
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26. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Author

Tebani, Abdellah, primary, Sudrié-Arnaud, Bénédicte, additional, Dabaj, Ivana, additional, Torre, Stéphanie, additional, Domitille, Laur, additional, Snanoudj, Sarah, additional, Heron, Benedicte, additional, Levade, Thierry, additional, Caillaud, Catherine, additional, Vergnaud, Sabrina, additional, Saugier-Veber, Pascale, additional, Coutant, Sophie, additional, Dranguet, Hélène, additional, Froissart, Roseline, additional, Al Khouri, Majed, additional, Alembik, Yves, additional, Baruteau, Julien, additional, Arnoux, Jean-Baptiste, additional, Brassier, Anais, additional, Brehin, Anne-Claire, additional, Busa, Tiffany, additional, Cano, Aline, additional, Chabrol, Brigitte, additional, Coubes, Christine, additional, Desguerre, Isabelle, additional, Doco-Fenzy, Martine, additional, Drenou, Bernard, additional, Elcioglu, Nursel H, additional, Elsayed, Solaf, additional, Fouilhoux, Alain, additional, Poirsier, Céline, additional, Goldenberg, Alice, additional, Jouvencel, Philippe, additional, Kuster, Alice, additional, Labarthe, François, additional, Lazaro, Leila, additional, Pichard, Samia, additional, Rivera, Serge, additional, Roche, Sandrine, additional, Roggerone, Stéphanie, additional, Roubertie, Agathe, additional, Sigaudy, Sabine, additional, Spodenkiewicz, Marta, additional, Tardieu, Marine, additional, Vanhulle, Catherine, additional, Marret, Stéphane, additional, and Bekri, Soumeya, additional

Published
2021
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27. Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Author

Elbitar, Sandy, primary, Renard, Marjolijn, additional, Arnaud, Pauline, additional, Hanna, Nadine, additional, Jacob, Marie-Paule, additional, Guo, Dong-Chuan, additional, Tsutsui, Ko, additional, Gross, Marie-Sylvie, additional, Kessler, Ketty, additional, Tosolini, Laurent, additional, Dattilo, Vincenzo, additional, Dupont, Sebastien, additional, Jonquet, Jeremie, additional, Langeois, Maud, additional, Benarroch, Louise, additional, Aubart, Melodie, additional, Ghaleb, Youmna, additional, Abou Khalil, Yara, additional, Varret, Mathilde, additional, El Khoury, Petra, additional, Ho-Tin-Noé, Benoit, additional, Alembik, Yves, additional, Gaertner, Sébastien, additional, Isidor, Bertrand, additional, Gouya, Laurent, additional, Milleron, Olivier, additional, Sekiguchi, Kiyotoshi, additional, Milewicz, Dianna, additional, De Backer, Julie, additional, Le Goff, Carine, additional, Michel, Jean-Baptiste, additional, Jondeau, Guillaume, additional, Sakai, Lynn Y., additional, Boileau, Catherine, additional, and Abifadel, Marianne, additional

Published
2021
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28. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Author

Schalk, Audrey, primary, Cousin, Margot A., additional, Challman, Thomas D., additional, Wain, Karen E., additional, Powis, Zöe, additional, Minks, Kelly, additional, Trimouille, Aurélien, additional, Lasseaux, Eulalie, additional, Lacombre, Didier, additional, Angelini, Chloé, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Spataro, Nino, additional, Ruiz, Anna, additional, Gabau, Elizabeth, additional, Stolerman, Elliot, additional, Washington, Camerun, additional, Louie, Raymond J., additional, Lanpher, Brendan C, additional, Kemppainen, Jennifer L., additional, Innes, A. Micheil, additional, Kooy, R. Frank, additional, Meuwissen, Marije, additional, Goldenberg, Alice, additional, Lecoquierre, François, additional, Vera, Gabriella, additional, Diderich, Karin E M, additional, Sheidley, Beth Rosen, additional, El Achkar, Christelle Moufawad, additional, Park, Meredith, additional, Hamdan, Fadi F., additional, Michaud, Jacques L., additional, Lewis, Ann J., additional, Zweier, Christiane, additional, Reis, André, additional, Wagner, Matias, additional, Weigand, Heike, additional, Journel, Hubert, additional, Keren, Boris, additional, Passemard, Sandrine, additional, Mignot, Cyril, additional, van Gassen, Koen L.I., additional, Brilstra, Eva H., additional, Itzikowitz, Gina, additional, O’Heir, Emily, additional, Allen, Jake, additional, Donald, Kirsten A., additional, Korf, Bruce R., additional, Skelton, Tammi, additional, Thompson, Michelle L, additional, Robin, Nathaniel H., additional, Rudy, Natasha, additional, Dobyns, William B., additional, Foss, Kimberly, additional, Zarate, Yuri A, additional, Bosanko, Katherine A., additional, Alembik, Yves, additional, Durand, Benjamin, additional, Mau-Them, Frédéric Tran, additional, Ranza, Emmanuelle, additional, Blanc, Xavier, additional, Antonarakis, Stylianos E., additional, McWalter, Kirsty, additional, Torti, Erin, additional, Millan, Francisca, additional, Dameron, Amy, additional, Tokita, Mari J., additional, Zimmermann, Michael T., additional, Dsouza, Nikita R., additional, Klee, Eric W., additional, Piton, Amélie, additional, and Gerard, Bénédicte, additional

Published
2020
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29. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

Author

Dagoneau, Nathalie, Benoist-Lasselin, Catherine, Huber, Celine, Faivre, Laurence, Megarbane, Andre, Alswaid, Abdulrahman, Dollfus, Helene, Alembik, Yves, Munnich, Arnold, Legeai-Mallet, Laurence, and Cormier-Daire, Valerie

Subjects
Syndromes -- Research, Syndromes -- Identification and classification, Chromosome abnormalities -- Research, Syndromes in children -- Research, Children -- Diseases, Children -- Research, Biological sciences
Published
2004

31. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Author

Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, de Leeuw, Nicole, de Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Gomez, Sergi Villatoro, Walha, Faida, Wu, Bai-lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, de Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, Moustafa, Julia S. El-Sayed, Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Helas, Géraldine Joly, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, MacDermot, Kay D., Magnusson, Pall, Marshall, Christian, Mathieu-Dramard, Michèle, McCarthy, Mark I., Meitinger, Thomas, Mencarelli, Maria Antonietta, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Ndiaye, Ndeye Coumba, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Ramelli, Gian Paolo, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, van Binsbergen, Ellen, Van der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., and Froguel, Philippe

Published
2011
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34. TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Author

Boussion, Simon, primary, Escande, Fabienne, additional, Jourdain, Anne‐Sophie, additional, Smol, Thomas, additional, Brunelle, Perrine, additional, Duhamel, Céline, additional, Alembik, Yves, additional, Attié‐Bitach, Tania, additional, Baujat, Geneviève, additional, Bazin, Anne, additional, Bonnière, Maryse, additional, Carassou, Philippe, additional, Carles, Dominique, additional, Devisme, Louise, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Grotto, Sarah, additional, Guichet, Agnès, additional, Jouk, Pierre‐Simon, additional, Loeuillet, Laurence, additional, Mechler, Charlotte, additional, Michot, Caroline, additional, Pelluard, Fanny, additional, Putoux, Audrey, additional, Whalen, Sandra, additional, Ghoumid, Jamal, additional, Manouvrier‐Hanu, Sylvie, additional, and Petit, Florence, additional

Published
2020
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35. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Author

Nasser, Hala, primary, Vera, Liza, additional, Elmaleh-Bergès, Monique, additional, Steindl, Katharina, additional, Letard, Pascaline, additional, Teissier, Natacha, additional, Ernault, Anais, additional, Guimiot, Fabien, additional, Afenjar, Alexandra, additional, Moutard, Marie Laure, additional, Héron, Delphine, additional, Alembik, Yves, additional, Momtchilova, Martha, additional, Milani, Paolo, additional, Kubis, Nathalie, additional, Pouvreau, Nathalie, additional, Zollino, Marcella, additional, Guilmin Crepon, Sophie, additional, Kaguelidou, Florentia, additional, Gressens, Pierre, additional, Verloes, Alain, additional, Rauch, Anita, additional, El Ghouzzi, Vincent, additional, Drunat, Severine, additional, and Passemard, Sandrine, additional

Published
2020
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36. A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

Author

Laugel-Haushalter, Virginie, Bär, Séverine, Schaefer, Elise, Stoetzel, Corinne, Geoffroy, Véronique, Alembik, Yves, Kharouf, Naji, Huckert, Mathilde, Hamm, Pauline, Hemmerlé, Joseph, Maniere, Marie-Cécile, Friant, Sylvie, Dollfus, Hélène, Bloch-Zupan, Agnès, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique moléculaire, génomique, microbiologie (GMGM), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Clinique [Hautepierre Strasbourg], Hôpital de Hautepierre [Strasbourg], Faculté de chirurgie dentaire - Strasbourg, Université de Strasbourg (UNISTRA), Biomatériaux et Bioingénierie (BB), Université de Strasbourg (UNISTRA)-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Nanomédecine Régénérative (NanoRegMed), and Les Hôpitaux Universitaires de Strasbourg (HUS)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NGS (next generation sequencing), Genetics, rare diseases, Sciences du Vivant [q-bio]/Biotechnologies, Case Report, amelogenesis imperfecta, human, skeletal dysplasia, Sciences du Vivant [q-bio]/Génétique
Abstract

International audience; Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed in a consanguineous family. The affected daughter presented with intra-uterine and postnatal growth retardation, skeletal dysplasia, macrocephaly, blue sclerae, and hypoplastic AI. We identified a homozygous missense mutation in exon 11 of SLC10A7 (NM_001300842.2: c.908C>T; p.Pro303Leu) segregating with the disease phenotype. We found that Slc10a7 transcripts were expressed in the epithelium of the developing mouse tooth, bones undergoing ossification, and in vertebrae. Our results revealed that SLC10A7 is overexpressed in patient fibroblasts. Patient cells display altered intracellular calcium localization suggesting that SLC10A7 regulates calcium trafficking. Mutations in this gene were previously reported to cause a similar syndromic phenotype, but with more severe skeletal defects (Ashikov et al., 2018;Dubail et al., 2018). Therefore, phenotypes resulting from a mutation in SLC10A7 can vary in severity. However, AI is the key feature indicative of SLC10A7 mutations in patients with skeletal dysplasia. Identifying this important phenotype will improve clinical diagnosis and patient management.

Published
2019

38. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Author

Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, and Robertson, Stephen P

Published
2007

39. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Author

Raux, Grégory, Bumsel, Emilie, Hecketsweiler, Bernadette, van Amelsvoort, Therese, Zinkstok, Janneke, Manouvrier-Hanu, Sylvie, Fantini, Carole, Brévière, Georges-Marie M., Di Rosa, Gabriella, Pustorino, Giuseppina, Vogels, Annick, Swillen, Ann, Legallic, Solenn, Bou, Jacqueline, Opolczynski, Gaelle, Drouin-Garraud, Valérie, Lemarchand, Marie, Philip, Nicole, Gérard-Desplanches, Aude, Carlier, Michèle, Philippe, Anne, Nolen, Marie Christine, Heron, Delphine, Sarda, Pierre, Lacombe, Didier, Coizet, Cyril, Alembik, Yves, Layet, Valérie, Afenjar, Alexandra, Hannequin, Didier, Demily, Caroline, Petit, Michel, Thibaut, Florence, Frebourg, Thierry, and Campion, Dominique

Published
2007

41. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

Author

Tebani, Abdellah, Sudrié-Arnaud, Bénédicte, Dabaj, Ivana, Torre, Stéphanie, Domitille, Laur, Snanoudj, Sarah, Heron, Benedicte, Levade, Thierry, Caillaud, Catherine, Vergnaud, Sabrina, Saugier-Veber, Pascale, Coutant, Sophie, Dranguet, Hélène, Froissart, Roseline, Al Khouri, Majed, Alembik, Yves, Baruteau, Julien, Arnoux, Jean-Baptiste, Brassier, Anais, Brehin, Anne-Claire, Busa, Tiffany, Cano, Aline, Chabrol, Brigitte, Coubes, Christine, Desguerre, Isabelle, Doco-Fenzy, Martine, Drenou, Bernard, Elcioglu, Nursel H, Elsayed, Solaf, Fouilhoux, Alain, Poirsier, Céline, Goldenberg, Alice, Jouvencel, Philippe, Kuster, Alice, Labarthe, Francois, Lazaro, Leila, Pichard, Samia, Rivera, Serge, Roche, Sandrine, Roggerone, Stéphanie, Roubertie, Agathe, Sigaudy, Sabine, Spodenkiewicz, Marta, Tardieu, Marine, Vanhulle, Catherine, Marret, Stéphane, and Bekri, Soumeya

Abstract

IntroductionThis study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).MethodsClinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed.ResultsThe clinical presentations in patients with GM1-gangliosidosis are consistent with a phenotypic continuum ranging from a severe antenatal form with hydrops fetalis to an adult form with an extrapyramidal syndrome. Molecular studies evidenced 47 variants located throughout the sequence of the GLB1gene, in all exons except 7, 11 and 12. Eighteen novel variants (15 substitutions and 3 deletions) were identified. Several variants were linked specifically to early-onset GM1-gangliosidosis, late-onset GM1-gangliosidosis or MPSIVB phenotypes. This integrative molecular and clinical stratification suggests a variant-driven patient assignment to a given clinical and severity group.ConclusionThis study reports one of the largest series of b-GAL deficiency with an integrative patient stratification combining molecular and clinical features. This work contributes to expand the community knowledge regarding the molecular and clinical landscapes of b-GAL deficiency for a better patient management.

Published
2022
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42. De novocoding variants in the AGO1gene cause a neurodevelopmental disorder with intellectual disability

Author

Schalk, Audrey, Cousin, Margot A, Dsouza, Nikita R, Challman, Thomas D, Wain, Karen E, Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C, Kemppainen, Jennifer L, Innes, Micheil, Kooy, Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, Francois, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth, El Achkar, Christelle Moufawad, Park, Meredith, Hamdan, Fadi F, Michaud, Jacques L, Lewis, Ann J, Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen, Brilstra, Eva H, Itzikowitz, Gina, O'Heir, Emily, Allen, Jake, Donald, Kirsten A, Korf, Bruce Richard, Skelton, Tammi, Thompson, Michelle, Robin, Nathaniel H, Rudy, Natasha L, Dobyns, William B, Foss, Kimberly, Zarate, Yuri Alexander, Bosanko, Katherine A, Alembik, Yves, Durand, Benjamin, Tran Mau-them, Frederic, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E, McWalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari, Zimmermann, Michael T, Klee, Eric W, Piton, Amelie, and Gerard, Benedicte

Abstract

BackgroundHigh-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).MethodsThis study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous AGO1coding variants, occurring de novo for all those whose transmission could have been verified (26/28).ResultsA total of 15 unique variants leading to amino acid changes or deletions were identified: 12 missense variants, two in-frame deletions of one codon, and one canonical splice variant leading to a deletion of two amino acid residues. Recurrently identified variants were present in several unrelated individuals: p.(Phe180del), p.(Leu190Pro), p.(Leu190Arg), p.(Gly199Ser), p.(Val254Ile) and p.(Glu376del). AGO1encodes the Argonaute 1 protein, which functions in gene-silencing pathways mediated by small non-coding RNAs. Three-dimensional protein structure predictions suggest that these variants might alter the flexibility of the AGO1 linker domains, which likely would impair its function in mRNA processing. Affected individuals present with intellectual disability of varying severity, as well as speech and motor delay, autistic behaviour and additional behavioural manifestations.ConclusionOur study establishes that de novo coding variants in AGO1are involved in a novel monogenic form of NDD, highly similar to the recently reported AGO2-related NDD.

Published
2022
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46. HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Author

Marini, Carla, primary, Porro, Alessandro, additional, Rastetter, Agnès, additional, Dalle, Carine, additional, Rivolta, Ilaria, additional, Bauer, Daniel, additional, Oegema, Renske, additional, Nava, Caroline, additional, Parrini, Elena, additional, Mei, Davide, additional, Mercer, Catherine, additional, Dhamija, Radhika, additional, Chambers, Chelsea, additional, Coubes, Christine, additional, Thévenon, Julien, additional, Kuentz, Paul, additional, Julia, Sophie, additional, Pasquier, Laurent, additional, Dubourg, Christèle, additional, Carré, Wilfrid, additional, Rosati, Anna, additional, Melani, Federico, additional, Pisano, Tiziana, additional, Giardino, Maria, additional, Innes, A Micheil, additional, Alembik, Yves, additional, Scheidecker, Sophie, additional, Santos, Manuela, additional, Figueiroa, Sonia, additional, Garrido, Cristina, additional, Fusco, Carlo, additional, Frattini, Daniele, additional, Spagnoli, Carlotta, additional, Binda, Anna, additional, Granata, Tiziana, additional, Ragona, Francesca, additional, Freri, Elena, additional, Franceschetti, Silvana, additional, Canafoglia, Laura, additional, Castellotti, Barbara, additional, Gellera, Cinzia, additional, Milanesi, Raffaella, additional, Mancardi, Maria Margherita, additional, Clark, Damien R, additional, Kok, Fernando, additional, Helbig, Katherine L, additional, Ichikawa, Shoji, additional, Sadler, Laurie, additional, Neupauerová, Jana, additional, Laššuthova, Petra, additional, Štěrbová, Katalin, additional, Laridon, Annick, additional, Brilstra, Eva, additional, Koeleman, Bobby, additional, Lemke, Johannes R, additional, Zara, Federico, additional, Striano, Pasquale, additional, Soblet, Julie, additional, Smits, Guillaume, additional, Deconinck, Nicolas, additional, Barbuti, Andrea, additional, DiFrancesco, Dario, additional, LeGuern, Eric, additional, Guerrini, Renzo, additional, Santoro, Bina, additional, Hamacher, Kay, additional, Thiel, Gerhard, additional, Moroni, Anna, additional, DiFrancesco, Jacopo C, additional, and Depienne, Christel, additional

Published
2018
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47. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Author

Clauss François, Manière Marie-Cécile, Reibel Amélie, Droz Dominique, Alembik Yves, Mornet Etienne, and Bloch-Zupan Agnès

Subjects
Medicine
Abstract

Abstract Background Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symptoms are highly variable in their clinical expression, and relate to numerous mutations in this gene. The first clinical sign of the disease is often a premature loss of deciduous teeth, mostly in the moderate forms. Aim The purpose of this study was to document the oral features of HP patients and to relate theses features to the six recognized forms of HP in 5 patients with known genotype and to investigate the genotype-phenotype correlations. Methods Clinical and radiographic examinations were carried out. We collected medical and dental history in the kindred and biochemical data. Finally, mutations in the ALPL gene were tested by DNA sequencing in SESEP laboratory. Results We have for the first time related the known dental anomalies which occur as integral features of HP to the recognized clinical forms of HP. We also pointed out striking dental abnormalities which were never described in association with this rare disease. Accurate genotype-phenotype severity correlations were observed. Conclusion This work allowed us to compare orodental manifestations in all the clinical forms of HP within the patient's sample. According to the severity of the disorder, some dental defects were infrequent, while other were always present. The long term prognosis of the permanent teeth varies from a patient to another. As premature loss of primary teeth is often the first, and sometimes the only visible symptom of the milder forms, the paediatric dentist plays a critical role in the detection and diagnosis of the disease.

Published
2009
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49. Study of 156 cases of polyhydramnios and congenital malformations in a series of 118,265 consecutive births

Author

Stoll, Claude G., Alembik, Yves, and Dott, Beatrice

Subjects
Amniotic fluid -- Abnormalities, Health
Abstract

Polyhydramnios, excessive volume of amniotic fluid, occurs in up to 1.5 percent of pregnancies and is associated with complications in both mother and fetus such as diabetes, multiple births, or congenital defects. The factors associated with polyhydramnios occurring with congenital malformations in 156 cases out of 118,265 pregnancies were evaluated. The abnormal births studied occurred from 1979 to 1987; 25 were stillbirths and 10 pregnancies were terminated. Anomalies were diagnosed prenatally in 64 cases. In 86 cases, there were more than one defect. The most common problems were congenital heart disease, musculoskeletal malformations, and defects of the digestive tract. Average weight and length, but not head circumference, were more often affected. Parents of affected children were significantly more likely than those of healthy children to be related, and close relatives had significantly higher rates of infants with malformations. Of 21 cases with abnormal chromosomes, only six were identified prenatally. No environmental factors such as smoking, occupation, drugs, radiation, or acute or chronic disease were associated with anomalies, but affected pregnancies more often had threatened miscarriages. This study indicates that general prenatal screening is not very accurate in identifying these cases. Higher level ultrasound imaging and chromosomal analysis are recommended in pregnancies with polyhydramnios. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

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