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2. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Author

Willim, Jana, Woike, Daniel, Greene, Daniel, Das, Sarada, Pfeifer, Kevin, Yuan, Weimin, Lindsey, Anika, Itani, Omar, Böhme, Amber L., Tibbe, Debora, Hönck, Hans-Hinrich, Hassani Nia, Fatemeh, Zech, Michael, Brunet, Theresa, Faivre, Laurence, Sorlin, Arthur, Vitobello, Antonio, Smol, Thomas, Colson, Cindy, Baranano, Kristin, Schatz, Krista, Bayat, Allan, Schoch, Kelly, Spillmann, Rebecca, Davis, Erica E., Conboy, Erin, Vetrini, Francesco, Platzer, Konrad, Neuser, Sonja, Gburek-Augustat, Janina, Grace, Alexandra Noel, Mitchell, Bailey, Stegmann, Alexander, Sinnema, Margje, Meeks, Naomi, Saunders, Carol, Cadieux-Dion, Maxime, Hoyer, Juliane, Van-Gils, Julien, de Sainte-Agathe, Jean-Madeleine, Thompson, Michelle L., Bebin, E. Martina, Weisz-Hubshman, Monika, Tabet, Anne-Claude, Verloes, Alain, Levy, Jonathan, Latypova, Xenia, Harder, Sönke, Silverman, Gary A., Pak, Stephen C., Schedl, Tim, Freson, Kathleen, Mumford, Andrew, Turro, Ernest, Schlein, Christian, Shashi, Vandana, and Kreienkamp, Hans-Jürgen

Published
2024
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3. 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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4. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, and Menke, Leonie A.

Published
2024
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6. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

Author

Sabbagh, Quentin, Haghshenas, Sadegheh, Piard, Juliette, Trouvé, Chloé, Amiel, Jeanne, Attié-Bitach, Tania, Balci, Tugce, Barat-Houari, Mouna, Belonis, Alyce, Boute, Odile, Brightman, Diana S., Bruel, Ange-Line, Caraffi, Stefano Giuseppe, Chatron, Nicolas, Collet, Corinne, Dufour, William, Edery, Patrick, Fong, Chin-To, Fusco, Carlo, Gatinois, Vincent, Gouy, Evan, Guerrot, Anne-Marie, Heide, Solveig, Joshi, Aakash, Karp, Natalya, Keren, Boris, Lesieur-Sebellin, Marion, Levy, Jonathan, Levy, Michael A., Lozano, Claire, Lyonnet, Stanislas, Margot, Henri, Marzin, Pauline, McConkey, Haley, Michaud, Vincent, Nicolas, Gaël, Nizard, Mevyn, Paulet, Alix, Peluso, Francesca, Pernin, Vincent, Perrin, Laurence, Philippe, Christophe, Prasad, Chitra, Prasad, Madhavi, Relator, Raissa, Rio, Marlène, Rondeau, Sophie, Ruault, Valentin, Ruiz-Pallares, Nathalie, Sanchez, Elodie, Shears, Debbie, Siu, Victoria Mok, Sorlin, Arthur, Tedder, Matthew, Tharreau, Mylène, Mau-Them, Frédéric Tran, van der Laan, Liselot, Van Gils, Julien, Verloes, Alain, Whalen, Sandra, Willems, Marjolaine, Yauy, Kévin, Zuntini, Roberta, Kerkhof, Jennifer, Sadikovic, Bekim, and Geneviève, David

Published
2024
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7. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Author

Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, Wentzensen, Ingrid, Crunk, Amy, Nicholls, Robert, Deignan, Joshua, Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, Martinez, Jose, Finnila, Candice, Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, Lindhout, Dick, Au, Margaret, Graham, John, Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, Lessard, Julie, Ernst, Carl, Campeau, Philippe, and Herman, Kristin

Subjects
ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Actins, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Dendrites, Epilepsy, Female, Humans, Induced Pluripotent Stem Cells, Infant, Male, Mutation, Neurodevelopmental Disorders, Neurons, Young Adult
Abstract

We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epileptic encephalopathy, and spasticity, and ten individuals with de novo heterozygous mutations displayed intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). Nine of these ten unrelated individuals had the identical de novo c.1027G>A (p.Gly343Arg) mutation. Human-derived neurons were generated that recaptured ACTL6B expression patterns in development from progenitor cell to post-mitotic neuron, validating the use of this model. Engineered knock-out of ACTL6B in wild-type human neurons resulted in profound deficits in dendrite development, a result recapitulated in two individuals with different bi-allelic mutations, and reversed on clonal genetic repair or exogenous expression of ACTL6B. Whole-transcriptome analyses and whole-genomic profiling of the BAF complex in wild-type and bi-allelic mutant ACTL6B neural progenitor cells and neurons revealed increased genomic binding of the BAF complex in ACTL6B mutants, with corresponding transcriptional changes in several genes including TPPP and FSCN1, suggesting that altered regulation of some cytoskeletal genes contribute to altered dendrite development. Assessment of bi-alleic and heterozygous ACTL6B mutations on an ACTL6B knock-out human background demonstrated that bi-allelic mutations mimic engineered deletion deficits while heterozygous mutations do not, suggesting that the former are loss of function and the latter are gain of function. These results reveal a role for ACTL6B in neurodevelopment and implicate another component of chromatin remodeling machinery in brain disease.

Published
2019

8. Psychomotor, Cognitive, and Socio-Emotional Developmental Profiles of Children with Rubinstein-Taybi Syndrome and a Severe Intellectual Disability

Author

Taupiac, Emmanuelle, Lacombe, Didier, Thiébaut, Eric, Van-Gils, Julien, Michel, Grégory, Fergelot, Patricia, and Adrien, Jean-Louis

Abstract

Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental profiles. Method: Twenty-three children with RSTS (12 boys; 11 girls; mean chronological age: 4 years and 10 months) with severe intellectual disability (mean developmental quotient = 32.39) were recruited from an Expert Department of Medical Genetics. Developmental assessments were carried out with the Brunet-Lézine-Revised scale and the Social Cognitive Evaluation Battery. Results: The participants' developmental profiles were characterised by heterogeneous psychomotor development, homogeneous cognitive and socio-emotional development, by more severe delays in expressive language, vocal imitation, and symbolic play skills, and by better developmental levels in socio-emotional abilities. Conclusions: Based on these atypical developmental profiles, early interventions should target the three most delayed abilities.

Published
2021
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9. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Author

Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, and Thauvin-Robinet, Christel

Published
2022
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10. A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages

Author

Adrien, Jean-Louis, Taupiac, Emmanuelle, Thiébaut, Eric, Paulais, Marie-Anna, Van-Gils, Julien, Kaye, Kelley, Blanc, Romuald, Gattegno, Maria Pilar, Contejean, Yves, Michel, Grégory, Dean, Annika, Barthélémy, Catherine, and Lacombe, Didier

Published
2021
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11. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Author

Le Roux, Marie, Barth, Magalie, Gueden, Sophie, Desbordes de Cepoy, Patrick, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, de Saint Martin, Anne, Portes, Vincent des, Lesca, Gaëtan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Van Gils, Julien, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, and Van Bogaert, Patrick

Published
2021
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12. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Almousa, Hashem, Lewis, Sara A., Bakhtiari, Somayeh, Nordlie, Sandra Hinz, Pagnozzi, Alex, Magee, Helen, Efthymiou, Stephanie, Heim, Jennifer A., Cornejo, Patricia, Zaki, Maha S., Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Neilson, Derek E., Vemuri, Anusha, Jin, Sheng Chih, Yang, Xiao Ru, Heidari, Abolfazl, Van Gassen, Koen, Trimouille, Aurélien, Thauvin-Robinet, Christel, Liu, James, Bruel, Ange Line, Tomoum, Hoda, Shata, Mennatallah O., Hashem, Mais O., Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Yeşil, Gözde, Lingappa, Lokesh, Baruah, Debangana, Ebrahimzadeh, Farnoosh, Van-Gils, Julien, Faivre, Laurence, Zamani, Mina, Galehdari, Hamid, Sadeghian, Saeid, Shariati, Gholamreza, Mohammad, Rahema, Van Der Smagt, Jasper, Qari, Alya, Vincent, John B., Innes, A. Micheil, Dursun, Ali, Özgül, R. Köksal, Akar, Halil Tuna, Bilguvar, Kaya, Mignot, Cyril, Keren, Boris, Raveli, Claudia, Burglen, Lydie, Afenjar, Alexandra, Kaat, Laura Donker, Van Slegtenhorst, Marjon, Alkuraya, Fowzan, Houlden, Henry, Padilla-Lopez, Sergio, Maroofian, Reza, Sacher, Michael, Kruer, Michael C., Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Almousa, Hashem, Lewis, Sara A., Bakhtiari, Somayeh, Nordlie, Sandra Hinz, Pagnozzi, Alex, Magee, Helen, Efthymiou, Stephanie, Heim, Jennifer A., Cornejo, Patricia, Zaki, Maha S., Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Neilson, Derek E., Vemuri, Anusha, Jin, Sheng Chih, Yang, Xiao Ru, Heidari, Abolfazl, Van Gassen, Koen, Trimouille, Aurélien, Thauvin-Robinet, Christel, Liu, James, Bruel, Ange Line, Tomoum, Hoda, Shata, Mennatallah O., Hashem, Mais O., Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Yeşil, Gözde, Lingappa, Lokesh, Baruah, Debangana, Ebrahimzadeh, Farnoosh, Van-Gils, Julien, Faivre, Laurence, Zamani, Mina, Galehdari, Hamid, Sadeghian, Saeid, Shariati, Gholamreza, Mohammad, Rahema, Van Der Smagt, Jasper, Qari, Alya, Vincent, John B., Innes, A. Micheil, Dursun, Ali, Özgül, R. Köksal, Akar, Halil Tuna, Bilguvar, Kaya, Mignot, Cyril, Keren, Boris, Raveli, Claudia, Burglen, Lydie, Afenjar, Alexandra, Kaat, Laura Donker, Van Slegtenhorst, Marjon, Alkuraya, Fowzan, Houlden, Henry, Padilla-Lopez, Sergio, Maroofian, Reza, Sacher, Michael, and Kruer, Michael C.

Published
2024

13. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Author

MS Oogheelkunde, Child Health, Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., MS Oogheelkunde, Child Health, Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.

Published
2024

14. Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement

Author

Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.

Abstract

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.

Published
2024

15. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Author

Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.

Abstract

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.

Published
2024

17. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Author

Lacombe, Didier, primary, Bloch-Zupan, Agnès, additional, Bredrup, Cecilie, additional, Cooper, Edward B, additional, Houge, Sofia Douzgou, additional, García-Miñaúr, Sixto, additional, Kayserili, Hülya, additional, Larizza, Lidia, additional, Lopez Gonzalez, Vanesa, additional, Menke, Leonie A, additional, Milani, Donatella, additional, Saettini, Francesco, additional, Stevens, Cathy A, additional, Tooke, Lloyd, additional, Van der Zee, Jill A, additional, Van Genderen, Maria M, additional, Van-Gils, Julien, additional, Waite, Jane, additional, Adrien, Jean-Louis, additional, Bartsch, Oliver, additional, Bitoun, Pierre, additional, Bouts, Antonia H M, additional, Cueto-González, Anna M, additional, Dominguez-Garrido, Elena, additional, Duijkers, Floor A, additional, Fergelot, Patricia, additional, Halstead, Elizabeth, additional, Huisman, Sylvia A, additional, Meossi, Camilla, additional, Mullins, Jo, additional, Nikkel, Sarah M, additional, Oliver, Chris, additional, Prada, Elisabetta, additional, Rei, Alessandra, additional, Riddle, Ilka, additional, Rodriguez-Fonseca, Cristina, additional, Rodríguez Pena, Rebecca, additional, Russell, Janet, additional, Saba, Alicia, additional, Santos-Simarro, Fernando, additional, Simpson, Brittany N, additional, Smith, David F, additional, Stevens, Markus F, additional, Szakszon, Katalin, additional, Taupiac, Emmanuelle, additional, Totaro, Nadia, additional, Valenzuena Palafoll, Irene, additional, Van Der Kaay, Daniëlle C M, additional, Van Wijk, Michiel P, additional, Vyshka, Klea, additional, Wiley, Susan, additional, and Hennekam, Raoul C, additional

Published
2024
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18. Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients

Author

Bianchi, Chloé, primary, Margot, Henri, additional, Fernandes, Helder, additional, Pasquet, Marlène, additional, Priqueler, Laurence, additional, Roy‐Peaud, Frédérique, additional, Bauduer, Frédéric, additional, Bayart, Sophie, additional, Garnier, Nathalie, additional, Fain, Olivier, additional, Van Gils, Julien, additional, Joly, Sandrine Baron, additional, Rialland, Fanny, additional, Paillard, Catherine, additional, Deparis, Marianna, additional, Lambilliotte, Anne, additional, Leblanc, Thierry, additional, Fahd, Mony, additional, Leverger, Guy, additional, Héritier, Sébastien, additional, Geneviève, David, additional, Rieux‐Laucat, Frédéric, additional, Picard, Capucine, additional, Neyraud, Caroline, additional, and Aladjidi, Nathalie, additional

Published
2024
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19. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Haghshenas, Sadegheh, primary, Bout, Hidde J., additional, Schijns, Josephine M., additional, Levy, Michael A., additional, Kerkhof, Jennifer, additional, Bhai, Pratibha, additional, McConkey, Haley, additional, Jenkins, Zandra A., additional, Williams, Ella M., additional, Halliday, Benjamin J., additional, Huisman, Sylvia A., additional, Lauffer, Peter, additional, de Waard, Vivian, additional, Witteveen, Laura, additional, Banka, Siddharth, additional, Brady, Angela F., additional, Galazzi, Elena, additional, van Gils, Julien, additional, Hurst, Anna C.E., additional, Kaiser, Frank J., additional, Lacombe, Didier, additional, Martinez-Monseny, Antonio F., additional, Fergelot, Patricia, additional, Monteiro, Fabíola P., additional, Parenti, Ilaria, additional, Persani, Luca, additional, Simarro, Fernando Santos, additional, Simpson, Brittany N., additional, Alders, Mariëlle, additional, Robertson, Stephen P., additional, Sadikovic, Bekim, additional, and Menke, Leonie A., additional

Published
2024
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21. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Author

Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K. H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, and Geneviève, David

Published
2020
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25. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Author

Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., and Rubboli, Guido

Published
2021
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26. 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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27. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals

Author

Sabbagh, Quentin, primary, Haghshenas, Sadegheh, additional, Piard, Juliette, additional, Trouvé, Chloé, additional, Amiel, Jeanne, additional, Attié-Bitach, Tania, additional, Balci, Tugce, additional, Barat-Houari, Mouna, additional, Belonis, Alyce, additional, Boute, Odile, additional, Brightman, Diana S., additional, Bruel, Ange-Line, additional, Caraffi, Stefano Giuseppe, additional, Chatron, Nicolas, additional, Collet, Corinne, additional, Dufour, William, additional, Edery, Patrick, additional, Fong, Chin-To, additional, Fusco, Carlo, additional, Gatinois, Vincent, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Heide, Solveig, additional, Joshi, Aakash, additional, Karp, Natalya, additional, Keren, Boris, additional, Lesieur-Sebellin, Marion, additional, Levy, Jonathan, additional, Levy, Michael A., additional, Lozano, Claire, additional, Lyonnet, Stanislas, additional, Margot, Henri, additional, Marzin, Pauline, additional, McConkey, Haley, additional, Michaud, Vincent, additional, Nicolas, Gaël, additional, Nizard, Mevyn, additional, Paulet, Alix, additional, Peluso, Francesca, additional, Pernin, Vincent, additional, Perrin, Laurence, additional, Philippe, Christophe, additional, Prasad, Chitra, additional, Prasad, Madhavi, additional, Relator, Raissa, additional, Rio, Marlène, additional, Rondeau, Sophie, additional, Ruault, Valentin, additional, Ruiz-Pallares, Nathalie, additional, Sanchez, Elodie, additional, Shears, Debbie, additional, Siu, Victoria Mok, additional, Sorlin, Arthur, additional, Tedder, Matthew, additional, Tharreau, Mylène, additional, Mau-Them, Frédéric Tran, additional, van der Laan, Liselot, additional, Van Gils, Julien, additional, Verloes, Alain, additional, Whalen, Sandra, additional, Willems, Marjolaine, additional, Yauy, Kévin, additional, Zuntini, Roberta, additional, Kerkhof, Jennifer, additional, Sadikovic, Bekim, additional, and Geneviève, David, additional

Published
2023
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28. Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome

Author

Cazalets, Jean René, Bestaven, Emma, Doat, Emilie, Baudier, Marie Pierre, Gallot, Cécile, Amestoy, Anouck, Bouvard, Manuel, Guillaud, Etienne, Guillain, Isabelle, Grech, Emelyne, Van-gils, Julien, Fergelot, Patricia, Fraisse, Sonia, Taupiac, Emmanuelle, Arveiler, Benoit, and Lacombe, Didier

Abstract

Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing (TD) participants. In contrast, the motor skills requiring a high level of visuomotor coordination were considerably degraded in RTS participants compared to TD participants. We also found that cognitive status was significantly correlated with performance for tasks requiring a higher level of visuomotor coordination in RTS but not TD participants. Our study demonstrates a reduction in the motor performance of RTS participants and a link between the level of intellectual disability and motor capacities.

Published
2017
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29. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Author

Almousa, Hashem, primary, Lewis, Sara A, additional, Bakhtiari, Somayeh, additional, Nordlie, Sandra Hinz, additional, Pagnozzi, Alex, additional, Magee, Helen, additional, Efthymiou, Stephanie, additional, Heim, Jennifer A, additional, Cornejo, Patricia, additional, Zaki, Maha S, additional, Anwar, Najwa, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Neilson, Derek E, additional, Vemuri, Anusha, additional, Jin, Sheng Chih, additional, Yang, Xiao-Ru, additional, Heidari, Abolfazl, additional, van Gassen, Koen, additional, Trimouille, Aurélien, additional, Thauvin-Robinet, Christel, additional, Liu, James, additional, Bruel, Ange-Line, additional, Tomoum, Hoda, additional, Shata, Mennatallah O, additional, Hashem, Mais O, additional, Toosi, Mehran Beiraghi, additional, Ghayoor Karimiani, Ehsan, additional, Yeşil, Gözde, additional, Lingappa, Lokesh, additional, Baruah, Debangana, additional, Ebrahimzadeh, Farnoosh, additional, Van-Gils, Julien, additional, Faivre, Laurence, additional, Zamani, Mina, additional, Galehdari, Hamid, additional, Sadeghian, Saeid, additional, Shariati, Gholamreza, additional, Mohammad, Rahema, additional, van der Smagt, Jasper, additional, Qari, Alya, additional, Vincent, John B, additional, Innes, A Micheil, additional, Dursun, Ali, additional, Özgül, R Köksal, additional, Akar, Halil Tuna, additional, Bilguvar, Kaya, additional, Mignot, Cyril, additional, Keren, Boris, additional, Raveli, Claudia, additional, Burglen, Lydie, additional, Afenjar, Alexandra, additional, Donker Kaat, Laura, additional, van Slegtenhorst, Marjon, additional, Alkuraya, Fowzan, additional, Houlden, Henry, additional, Padilla-Lopez, Sergio, additional, Maroofian, Reza, additional, Sacher, Michael, additional, and Kruer, Michael C, additional

Published
2023
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30. Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Author

Marzin, Pauline, Rondeau, Sophie, Alessandri, Jean-Luc, Dieterich, Klaus, le Goff, Carine, Mahaut, Clémentine, Mercier, Sandra, Michot, Caroline, Moldovan, Oana, Miolo, Gianmaria, Rossi, Massimiliano, Van-Gils, Julien, Francannet, Christine, Robert, Matthieu P., Jais, Jean-Philippe, Huber, Céline, and Cormier-Daire, Valerie

Abstract

Background Weill-Marchesani syndrome (WMS) belongs to the group of acromelic dysplasias, defined by short stature, brachydactyly and joint limitations. WMS is characterised by specific ophthalmological abnormalities, although cardiovascular defects have also been reported. Monoallelic variations in FBN1 are associated with a dominant form of WMS, while biallelic variations in ADAMTS10, ADAMTS17 and LTBP2 are responsible for a recessive form of WMS. Objective Natural history description of WMS and genotype-phenotype correlation establishment. Materials and methods Retrospective multicentre study and literature review. Inclusion criteria: clinical diagnosis of WMS with identified pathogenic variants. Results 61 patients were included: 18 individuals from our cohort and 43 patients from literature. 21 had variants in ADAMTS17, 19 in FBN1, 19 in ADAMTS10 and 2 in LTBP2. All individuals presented with eye anomalies, mainly spherophakia (42/61) and ectopia lentis (39/61). Short stature was present in 73% (from -2.2 to -5.5 SD), 10/61 individuals had valvulopathy. Regarding FBN1 variants, patients with a variant located in transforming growth factor (TGF)-β-binding proteinlike domain 5 (TB5) domain were significantly smaller than patients with FBN1 variant outside TB5 domain (p=0.0040). Conclusion Apart from the ophthalmological findings, which are mandatory for the diagnosis, the phenotype of WMS seems to be more variable than initially described, partially explained by genotype-phenotype correlation. [ABSTRACT FROM AUTHOR]

Published
2024
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31. Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

Author

Tran Mau-Them, Frédéric, primary, Overs, Alexis, additional, Bruel, Ange-Line, additional, Duquet, Romain, additional, Thareau, Mylene, additional, Denommé-Pichon, Anne-Sophie, additional, Vitobello, Antonio, additional, Sorlin, Arthur, additional, Safraou, Hana, additional, Nambot, Sophie, additional, Delanne, Julian, additional, Moutton, Sebastien, additional, Racine, Caroline, additional, Engel, Camille, additional, De Giraud d’Agay, Melchior, additional, Lehalle, Daphne, additional, Goldenberg, Alice, additional, Willems, Marjolaine, additional, Coubes, Christine, additional, Genevieve, David, additional, Verloes, Alain, additional, Capri, Yline, additional, Perrin, Laurence, additional, Jacquemont, Marie-Line, additional, Lambert, Laetitia, additional, Lacaze, Elodie, additional, Thevenon, Julien, additional, Hana, Nadine, additional, Van-Gils, Julien, additional, Dubucs, Charlotte, additional, Bizaoui, Varoona, additional, Gerard-Blanluet, Marion, additional, Lespinasse, James, additional, Mercier, Sandra, additional, Guerrot, Anne-Marie, additional, Maystadt, Isabelle, additional, Tisserant, Emilie, additional, Faivre, Laurence, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, and Thauvin-Robinet, Christel, additional

Published
2023
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32. Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study

Author

Charpié, Maëlle, Brunelle, Perrine, Baujat, Geneviève, Michot, Caroline, Van Gils, Julien, Leheup, Bruno, Schaefer, Élise, Koumakis, Eugénie, Pejin, Zagorka, Pinto, Graziella, Monnot, Sophie, and Cormier-Daire, Valérie

Abstract

Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations in COL1A1and COL1A2account for approximately 85–90% of OI cases, there are now more than twenty genes described, responsible for rare forms of OI. Treatment is based on the use of bisphosphonates and though it is well established that they increase lumbar spine (LS) bone mineral density (BMD), the clinical impact on fracture reduction is still debated.

Published
2024
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34. Hemidystonia with polymicrogyria is part of ATP1A3-related disorders

Author

Lacombe, Didier, primary, Van-Gils, Julien, additional, Lebrun, Marine, additional, Trimouille, Aurélien, additional, Michaud, Vincent, additional, Cabet, Sara, additional, Chateil, Jean-François, additional, Pedespan, Jean-Michel, additional, Bar, Claire, additional, and Lesca, Gaetan, additional

Published
2022
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35. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Author

Miceli, Francesco, primary, Millevert, Charissa, additional, Soldovieri, Maria Virginia, additional, Mosca, Ilaria, additional, Ambrosino, Paolo, additional, Carotenuto, Lidia, additional, Schrader, Dewi, additional, Lee, Hyun Kyung, additional, Riviello, James, additional, Hong, William, additional, Risen, Sarah, additional, Emrick, Lisa, additional, Amin, Hitha, additional, Ville, Dorothée, additional, Edery, Patrick, additional, de Bellescize, Julitta, additional, Michaud, Vincent, additional, Van-Gils, Julien, additional, Goizet, Cyril, additional, Willemsen, Marjolein H., additional, Kleefstra, Tjitske, additional, Møller, Rikke S, additional, Bayat, Allan, additional, Devinsky, Orrin, additional, Sands, Tristan, additional, Korenke, G. Christoph, additional, Kluger, Gerhard, additional, Mefford, Heather C., additional, Brilstra, Eva, additional, Lesca, Gaetan, additional, Milh, Mathieu, additional, Cooper, Edward C., additional, Taglialatela, Maurizio, additional, and Weckhuysen, Sarah, additional

Published
2022
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36. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

Author

Genetica Klinische Genetica, Brain, Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, Weckhuysen, Sarah, Genetica Klinische Genetica, Brain, Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H, Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G Christoph, Kluger, Gerhard, Mefford, Heather C, Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C, Taglialatela, Maurizio, and Weckhuysen, Sarah

Published
2022

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

Author

Genetica Sectie Genoomdiagnostiek, Child Health, 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, Gerard, Benedicte, Genetica Sectie Genoomdiagnostiek, Child Health, 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

Published
2022

39. The Globally search for a Regular Expression and Print matching lines (GREP) strategy: an innovative reanalysis strategy combining bibliographic monitoring with fast GREP directly applied to a massive genomic database to rapidly improve diagnosis

Author

Frédéric Tran Mau Them, Alexis Overs, ange-line bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline RACINE, Camille Engel, Melchior D’agay, Daphné Lehalle, Alice Goldenberg, Marjolaine Willems, christine Coubes, David Geneviève, Alain Verloes, Yline CAPRI, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hanna, Van-Gils Julien, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, and Christel Thauvin-Robinet

Subjects
genetic structures
Abstract

Purpose: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Prospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organizational difficulties for clinical laboratories. We applied a reanalysis strategy based on intensive prospective bibliographic monitoring, and directly applied the Globally search for a Regular Expression and Print matching lines (GREP) command-line to a massive ES database. Methods: For 18 months, we submitted daily the same 5 keywords of interest (( intellectual disability, ( neuro)developmental delay, (neuro)developmental disorder)) to PubMed, to identify recently published, novel disease-gene associations, or new phenotypes in genes already implicated in human pathology. We used the Linux GREP command-line and an in-house script, to collect all variants in these genes from our 5459 exome database. Results: We grepped 128 genes and collected 56 candidate variants in 53 individuals. We confirmed causal diagnosis for 19/128 genes (15%) in 21 individuals, and identified variants of unknown significance for 19/128 genes (15%) in 23 individuals. Altogether, we confirmed pathogenicity in 21/2875 undiagnosed affected probands (0.7%). Conclusion: The GREP command-line is efficient, and less tedious than complete periodical reanalysis. It is an interesting reanalysis strategy to improve diagnosis.

Published
2022
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40. 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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41. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Author

Denommé-Pichon, Anne-Sophie, primary, Vitobello, Antonio, additional, Olaso, Robert, additional, Ziegler, Alban, additional, Jeanne, Médéric, additional, Tran Mau-Them, Frédéric, additional, Couturier, Victor, additional, Racine, Caroline, additional, Isidor, Bertrand, additional, Poë, Charlotte, additional, Jouan, Thibaud, additional, Boland, Anne, additional, Fin, Bertrand, additional, Bacq-Daian, Delphine, additional, Besse, Céline, additional, Garde, Aurore, additional, Prost, Adeline, additional, Garret, Philippine, additional, Tisserant, Émilie, additional, Delanne, Julian, additional, Nambot, Sophie, additional, Juven, Aurélien, additional, Gorce, Magali, additional, Nizon, Mathilde, additional, Vincent, Marie, additional, Moutton, Sébastien, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoë, additional, Rollier, Paul, additional, Capri, Yline, additional, Van-Gils, Julien, additional, Busa, Tiffany, additional, Sigaudy, Sabine, additional, Pasquier, Laurent, additional, Barth, Magalie, additional, Bruel, Ange-Line, additional, Flamant, Cyril, additional, Prouteau, Clément, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Chantegret, Corinne, additional, Callier, Patrick, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, Deleuze, Jean-François, additional, Sorlin, Arthur, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional

Published
2021
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42. Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

Author

Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe D. I., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Amsterdam Gastroenterology Endocrinology Metabolism, General Paediatrics, and APH - Quality of Care

Abstract

(The American Journal of Human Genetics 106, 356–370; March 5, 2020) In the version of this paper originally published, the underlying cause for Hunter McAlpine syndrome was incorrectly described in Table 1. The relevant description has been changed to read “Chr5q35-qter duplication involving NSD1” in the updated Table 1 reflected here. The authors apologize for this error.

Published
2021

43. De novo coding variants in the AGO1 gene 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, and Lanpher, Brendan C.

Abstract

Background High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD). Methods This study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous AGO1 coding variants, occurring de novo for all those whose transmission could have been verified (26/28). Results A 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). AGO1 encodes 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 manifestation Conclusion Our study establishes that de novo coding variants in AGO1 are involved in a novel monogenic form of NDD, highly similar to the recently reported AGO2-related NDD. [ABSTRACT FROM AUTHOR]

Published
2022
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45. La copropriété réformée : quelques points de repère et d'analyse à l'attention des praticiens

Author

UCL - SSH/JURI/PJPR - Droit privé, Janssens Olivia, Jauniaux, Olivier, Van Gils Julien, UCL - SSH/JURI/PJPR - Droit privé, Janssens Olivia, Jauniaux, Olivier, and Van Gils Julien

Abstract

Le Titre 4 du Livre 3 « Les biens » du nouveau Code civil comporte trente-trois articles numérotés 3.68 à 3.100. Le premier d’entre eux définit la notion de copropriété en son alinéa 1er et précise en son alinéa 3 que celle-ci « peut naître de manière fortuite, par la volonté des parties ou de manière forcée » . Les trente-deux articles subséquents sont ensuite classés dans trois sous-titres correspondant à chacun des modes d’apparition de la situation de copropriété ainsi identifiés. Dans les limites de la présente contribution, il ne nous sera pas possible de commenter l’ensemble de ces dispositions. Il a dès lors fallu faire des choix, lesquels ont été dictés par le souhait de se concentrer sur des questions récemment réformées et présentant un intérêt pour les praticiens. Notre propos sera subdivisé en deux sections. La première sera consacrée à la copropriété volontaire et, plus précisément, à la problématique de la fin de la copropriété immobilière volontaire. Dans la seconde section, des questions en rapport avec la copropriété forcée d’immeubles ou groupes d’immeubles bâtis seront abordées en deux temps : un inventaire (subjectif et incomplet) de nouveautés législatives en la matière précèdera un focus sur cette nouvelle figure qu’est l’administrateur provisoire de copropriété.

Published
2021

48. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Author

Aref-Eshghi, Erfan, primary, Kerkhof, Jennifer, additional, Pedro, Victor P., additional, France, Groupe DI, additional, Barat-Houari, Mouna, additional, Ruiz-Pallares, Nathalie, additional, Andrau, Jean-Christophe, additional, Lacombe, Didier, additional, Van-Gils, Julien, additional, Fergelot, Patricia, additional, Dubourg, Christéle, additional, Cormier-Daire, Valerie, additional, Rondeau, Sophie, additional, Lecoquierre, François, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, Lesca, Gaetan, additional, Chatron, Nicolas, additional, Sanlaville, Damien, additional, Vitobello, Antonio, additional, Faivre, Laurence, additional, Thauvin-Robinet, Christel, additional, Laumonnier, Frederic, additional, Raynaud, Martine, additional, Alders, Mariëlle, additional, Mannens, Marcel, additional, Henneman, Peter, additional, Hennekam, Raoul C., additional, Velasco, Guillaume, additional, Francastel, Claire, additional, Ulveling, Damien, additional, Ciolfi, Andrea, additional, Pizzi, Simone, additional, Tartaglia, Marco, additional, Heide, Solveig, additional, Héron, Delphine, additional, Mignot, Cyril, additional, Keren, Boris, additional, Whalen, Sandra, additional, Afenjar, Alexandra, additional, Bienvenu, Thierry, additional, Campeau, Philippe M., additional, Rousseau, Justine, additional, Levy, Michael A., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Balci, Tugce B., additional, Siu, Victoria Mok, additional, Stuart, Alan, additional, Kadour, Mike, additional, Masters, Jennifer, additional, Takano, Kyoko, additional, Kleefstra, Tjitske, additional, de Leeuw, Nicole, additional, Field, Michael, additional, Shaw, Marie, additional, Gecz, Jozef, additional, Ainsworth, Peter J., additional, Lin, Hanxin, additional, Rodenhiser, David I., additional, Friez, Michael J., additional, Tedder, Matt, additional, Lee, Jennifer A., additional, DuPont, Barbara R., additional, Stevenson, Roger E., additional, Skinner, Steven A., additional, Schwartz, Charles E., additional, Genevieve, David, additional, and Sadikovic, Bekim, additional

Published
2021
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49. Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Author

Le Roux, Marie, van Gils, Julien, Gueden, Sophie, de Cepoy, Patrick Desbordes, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, Martin, Anne de Saint, Des Portes, Vincent, Lesca, Gaetan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, van Bogaert, Patrick, Hôpital des Enfants - Groupe hospitalier Pellegrin - CHU de Bordeaux, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Strasbourg, Hôpital Necker, Centre Hospitalier de la Côte Basque (CHCB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Nouvel Hôpital Civil de Strasbourg, Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Universitaire des Enfants Reine Fabiola [Bruxelles, Belgique] (HUDERF), Hôpital Erasme [Bruxelles] (ULB), Faculté de Médecine [Bruxelles] (ULB), Université libre de Bruxelles (ULB)-Université libre de Bruxelles (ULB), Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de recherche cerveau et cognition (CERCO), Institut des sciences du cerveau de Toulouse. (ISCT), Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Université de Toulouse (UT)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J), Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Bordeaux [Bordeaux], CHU Pontchaillou [Rennes], CHU Pitié-Salpêtrière [AP-HP], Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), Gall, Valérie, Le CHCB, Centre Hospitalier de la Côte Basque, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), and Jonchère, Laurent

Subjects
Male, medicine.medical_specialty, Neurology, [SDV]Life Sciences [q-bio], Mutation, Missense, [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, Germline, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Germline mutation, 030225 pediatrics, medicine, Humans, Missense mutation, STXBP1, PIGA- Glycosylphosphatidylinositol-encephalopathy –early-onset epilepsy- whole-exome sequencing-next-generation sequencing 1, Child, Germ-Line Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, Electroencephalography, General Medicine, medicine.disease, Phenotype, 3. Good health, [SDV] Life Sciences [q-bio], Epileptic spasms, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery
Abstract

International audience; The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the widespread availability of next-generation sequencing and whole-exome sequencing. In the past 15 years, mutations in STXBP1, KCNQ2, SCN2A, SCN8A and numerous other genes have been reported, giving a more accurate insight for these rare diseases. Among these genes, germline mutations in Phosphatidyl Inositol Glycan A (PIGA) gene were first reported in 2012. Located on Xp22.2, PIGA is involved in the synthesis of GPI (glycosylphosphatidylinositol) which acts as a membrane anchor for different proteins: enzymes, adhesion molecules, regulation of the complement way, and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy, severe dysmorphic signs, multi-visceral anomalies and early death in the most severe forms. Here, we report five cases of germline PIGA mutations, with two missense mutations that have not been reported to date. We provide a new insight into the electroclinical phenotype. At the onset, epileptic spasms and focal-onset seizures with upper limbs and ocular involvements were present. Epilepsy proved pharmacoresistant in 4 out of 5 cases. Interictal EEG may be normal at the onset of epilepsy, but abnormalities in electroencephalographic studies were eventually present in all cases. Different types of seizures may be present simultaneously, and epileptic phenotypes evolve with aging.

Published
2020
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50. Cohorte française de 41 patients porteurs d’une délétion 2q37

Author

Colson, Cindy, Ranguin, Kara, Richard, Nicolas, Audebert-Bellanger, Séverine, Bonnet-Dupeyron, Marie-Noëlle, Bonnet, Céline, Callier, Patrick, Fradin, Mélanie, Isidor, Bertrand, Marquet, Valentine, Nizon, Mathilde, Puechberty, Jacques, Schaefer, Elise, Tabet, Anne Claude, Toutain, Annick, Uguen, Kévin, Marie, Vincent, van Gils, Julien, Gérard, Marion, Gruchy, Nicolas, Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de Génétique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Nouvel Hôpital Civil de Strasbourg, Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Abstract

National audience; Le locus 2q37 est l’une des régions subtélomériques les plus fréquemment délétées, pouvant être à l’origine du syndrome microdélétionnel 2q37, aussi appelé syndrome d’Ostéodystrophie Héréditaire d’Albright-like (AHO-like) ou syndrome retard mental-brachydactylie (BDMR) (MIM 60043), d’expression clinique variable. Suite à un appel à collaboration nationale, 41 patients porteurs d’une délétion 2q37 isolée ont été recensés. Tous les diagnostics ont été posés par l’analyse chromosomique sur puces à ADN, et confirmés par FISH avec une sonde locus-spécifique 2q37. Les délétions sont de taille variable, de 14kb intragénique DIS3L2 à 9.6 Mb. La majorité des cas est non héritée, de probable survenue de novo. Cette cohorte, pédiatrique et adulte, permet de confirmer la variabilité phénotypique et d’affiner le phénotype post-natal (1 seul cas prénatal). Les deux signes principaux mais inconstants sont les difficultés légères à modérées des apprentissages associées à des troubles comportementaux notamment des difficultés attentionnelles, et la brachydactylie. La morphologie faciale typique précédemment rapportée est fréquente également dans notre cohorte. L’obésité (6/26), le surpoids (3/26), la petite taille (2/29) sont absents dans plus de 70% des cas. L’épilepsie est décrite dans 15% des cas. Les malformations sont le plus souvent cardiaques et rénales, de bon pronostic. D’autres particularités cliniques ont été soulignées (notamment malformations cérébrales non spécifiques, troubles du transit, trouble du sommeil, troubles squelettiques et hyperlaxité). Il s’agit de la plus grosse cohorte de patients non publiés (28/41) décrite à ce jour.

Published
2020

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