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206 results on '"Gérard, Bénédicte"'

1. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Author

Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, and Ruaud, Lyse

Published
2024
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2. ARF1-related disorder: phenotypic and molecular spectrum.

Author

de Sainte Agathe, Jean-Madeleine, Pode-Shakked, Ben, Naudion, Sophie, Michaud, Vincent, Arveiler, Benoit, Fergelot, Patricia, Delmas, Jean, Keren, Boris, Poirsier, Céline, Alkuraya, Fowzan, Tabarki, Brahim, Bend, Eric, Davis, Kellie, Bebin, Martina, Thompson, Michelle, Bryant, Emily, Wagner, Matias, Hannibal, Iris, Lenberg, Jerica, Krenn, Martin, Wigby, Kristen, Friedman, Jennifer, Iascone, Maria, Cereda, Anna, Miao, Térence, LeGuern, Eric, Sherr, Elliott, Caluseriu, Oana, Tidwell, Timothy, Bayrak-Toydemir, Pinar, Hagedorn, Caroline, Brugger, Melanie, Vill, Katharina, Morneau-Jacob, Francois-Dominique, Chung, Wendy, Weaver, Kathryn, Owens, Joshua, Husami, Ammar, Chaudhari, Bimal, Stone, Brandon, Burns, Katie, Li, Rachel, de Lange, Iris, Biehler, Margaux, Ginglinger, Emmanuelle, Gérard, Bénédicte, Stottmann, Rolf, Trimouille, Aurélien, and Argilli, Emanuela

Subjects
epilepsy, human genetics, sequence analysis, DNA, Humans, Brain, Genotype, Intellectual Disability, Microcephaly, Periventricular Nodular Heterotopia, Phenotype, Seizures
Abstract

PURPOSE: ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder. METHODS: We collected detailed phenotypes of an international cohort of individuals (n=17) with ARF1 variants assembled through the GeneMatcher platform. Missense variants were structurally modelled, and the impact of several were functionally validated. RESULTS: De novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) in ARF1 were identified among 17 unrelated individuals. Detailed phenotypes included intellectual disability (ID), microcephaly, seizures and PVNH. No specific facial characteristics were consistent across all cases, however microretrognathia was common. Various hearing and visual defects were recurrent, and interestingly, some inflammatory features were reported. MRI of the brain frequently showed abnormalities consistent with a neuronal migration disorder. CONCLUSION: We confirm the role of ARF1 in an autosomal dominant syndrome with a phenotypic spectrum including severe ID, microcephaly, seizures and PVNH due to impaired neuronal migration.

Published
2023

3. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Author

Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, and Ruaud, Lyse

Published
2024
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4. Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study

Author

Baer, Sarah, Schalk, Audrey, Miguet, Marguerite, Schaefer, Élise, El Chehadeh, Salima, Ginglinger, Emmanuelle, de Saint Martin, Anne, Abi Wardé, Marie-Thérèse, Laugel, Vincent, de Feraudy, Yvan, Gauer, Lucas, Hirsch, Edouard, Boulay, Clotilde, Bansept, Claire, Bolocan, Anamaria, Kitadinis, Ismini, Gouronc, Aurélie, Gérard, Bénédicte, Piton, Amélie, and Scheidecker, Sophie

Published
2024
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5. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

Author

de Masfrand, Servane, Cogné, Benjamin, Nizon, Mathilde, Deb, Wallid, Goldenberg, Alice, Lecoquierre, François, Nicolas, Gaël, Bournez, Marie, Vitobello, Antonio, Mau-Them, Frédéric Tran, le Guyader, Gwenaël, Bilan, Frédéric, Bauer, Peter, Zweier, Christiane, Piard, Juliette, Pasquier, Laurent, Bézieau, Stéphane, Gerard, Bénédicte, Faivre, Laurence, Saugier-Veber, Pascale, Piton, Amélie, and Isidor, Bertrand

Published
2024
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6. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Author

Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander PA, Vanhoutte, Els K, Verdonschot, Job AJ, Kaiser, Frank J, Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna GM, Argilli, Emanuela, Sherr, Elliott H, Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M, Horsthemke, Bernhard, Piton, Amélie, and Depienne, Christel

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Brain Disorders, Mental Health, Intellectual and Developmental Disabilities (IDD), Biotechnology, Autism, Human Genome, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Mental health, Humans, Chromosomes, Human, X, Genes, X-Linked, Intellectual Disability, Autism Spectrum Disorder, Databases, Genetic
Abstract

Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. We analyze gene constraints, exon and promoter conservation, expression, and paralogues, and report 127 genes sharing one or more attributes with known chrX disorder genes. Using machine learning classifiers trained to distinguish disease-associated from dispensable genes, we classify 247 genes, including 115 of the 127, as having high probability of being disease-associated. We provide evidence of an excess of variants in predicted genes in existing databases. Finally, we report damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism spectrum disorders. This study predicts large-scale gene-disease associations that could be used for prioritization of X-linked pathogenic variants.

Published
2022

7. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Author

Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C., Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M., Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, and Van Esch, Hilde

Published
2023
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9. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Author

Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Tran Mau-Them, Frédéric, Tessarech, Marine, Colin, Estelle, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, and Lecoquierre, François

Published
2022
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11. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Author

Juven, Aurélien, Nambot, Sophie, Piton, Amélie, Jean-Marçais, Nolwenn, Masurel, Alice, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Kuentz, Paul, Philippe, Christophe, Chevarin, Martin, Duffourd, Yannis, Gautier, Elodie, Munnich, Arnold, Rio, Marlène, Rondeau, Sophie, El Chehadeh, Salima, Schaefer, Élise, Gérard, Bénédicte, Bouquillon, Sonia, Delorme, Catherine Vincent, Francannet, Christine, Laffargue, Fanny, Gouas, Laetitia, Isidor, Bertrand, Vincent, Marie, Blesson, Sophie, Giuliano, Fabienne, Pichon, Olivier, Le Caignec, Cédric, Journel, Hubert, Perrin-Sabourin, Laurence, Fabre-Teste, Jennifer, Martin, Dominique, Vieville, Gaelle, Dieterich, Klaus, Lacombe, Didier, Denommé-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, and Faivre, Laurence

Published
2020
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13. Stress-Induced Mutagenesis in Bacteria

Author

Bjedov, Ivana, Tenaillon, Olivier, Gérard, Bénédicte, Souza, Valeria, Denamur, Erick, Radman, Miroslav, Taddei, François, and Matic, Ivan

Published
2003

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

Author

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

Abstract

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

Published
2023

16. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

Author

Passemard, Sandrine, Verloes, Alain, Billette de Villemeur, Thierry, Boespflug-Tanguy, Odile, Hernandez, Karen, Laurent, Marion, Isidor, Bertrand, Alberti, Corinne, Pouvreau, Nathalie, Drunat, Séverine, Gérard, Bénédicte, El Ghouzzi, Vincent, Gallego, Jorge, Elmaleh-Bergès, Monique, Huttner, Wieland B., Eliez, Stephan, Gressens, Pierre, and Schaer, Marie

Published
2016
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17. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study

Author

Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Samuel, Groeschel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, and Ruaud, Lyse

Abstract

Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with neurological regression in some patients. Through international collaborative call, we collected 26 patients with EEF1A2variants and compared them to the literature. Our cohort shows a significantly milder phenotype. 83% of the patients are walking (vs. 29% in the literature), and 84% of the patients have language skills (vs. 15%). Three of our patients do not have ID. Epilepsy is present in 63% (vs. 93%). Neurological examination shows a less severe phenotype with significantly less hypotonia (58% vs. 96%), and pyramidal signs (24% vs. 68%). Cognitive regression was noted in 4% (vs. 56% in the literature). Among individuals over 10 years, 56% disclosed neurocognitive regression, with a mean age of onset at 2 years. We describe 8 novel missense variants of EEF1A2. Modeling of the different amino-acid sites shows that the variants associated with a severe phenotype, and the majority of those associated with a moderate phenotype, cluster within the switch II region of the protein and thus may affect GTP exchange. In contrast, variants associated with milder phenotypes may impact secondary functions such as actin binding. We report the largest cohort of individuals with EEF1A2variants thus far, allowing us to expand the phenotype spectrum and reveal genotype-phenotype correlations.

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

Author

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

Subjects
Genomic Medicine, 10039 Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, 10124 Institute of Molecular Life Sciences, Genetic Medicine
Published
2023
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19. A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

Author

Marx, David, primary, Dupuis, Arnaud, additional, Eckly, Anita, additional, Molitor, Anne, additional, Olagne, Jérôme, additional, Touchard, Guy, additional, Kaaki, Sihem, additional, Ory, Cécile, additional, Faller, Anne-Laure, additional, Gérard, Bénédicte, additional, Cotter, Melanie, additional, Westerberg, Lisa, additional, Keszei, Marton, additional, Moulin, Bruno, additional, Gachet, Christian, additional, Caillard, Sophie, additional, Bahram, Seiamak, additional, and Carapito, Raphaël, additional

Published
2022
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20. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

Author

Busiah, Kanetee, Drunat, Séverine, Vaivre-Douret, Laurence, Bonnefond, Amélie, Simon, Albane, Flechtner, Isabelle, Gérard, Bénédicte, Pouvreau, Nathalie, Elie, Caroline, Nimri, Revital, Vries, Liat De, Tubiana-Rufi, Nadia, Metz, Chantal, Bertrand, Anne-Marie, Nivot-Adamiak, Sylvie, de Kerdanet, Marc, Stuckens, Chantal, Jennane, Farida, Souchon, Pierre-François, Tallec, Claire Le, Désirée, Christelle, Pereira, Sabrina, Dechaume, Aurélie, Robert, Jean-Jacques, Phillip, Moshe, Scharfmann, Raphaël, Czernichow, Paul, Froguel, Philippe, Vaxillaire, Martine, Polak, Michel, and Cavé, Hélène

Published
2013
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22. Systematic analysis and prediction of genes associated with disorders on chromosome X

Author

Leitão, Elsa, primary, Schröder, Christopher, additional, Parenti, Ilaria, additional, Dalle, Carine, additional, Rastetter, Agnès, additional, Kühnel, Theresa, additional, Kuechler, Alma, additional, Kaya, Sabine, additional, Gérard, Bénédicte, additional, Schaefer, Elise, additional, Nava, Caroline, additional, Drouot, Nathalie, additional, Engel, Camille, additional, Piard, Juliette, additional, Duban-Bedu, Bénédicte, additional, Villard, Laurent, additional, Stegmann, Alexander P.A., additional, Vanhoutte, Els K., additional, Verdonshot, Job A.J, additional, Kaiser, Frank J., additional, Mau-Them, Frédéric Tran, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Frints, Suzanna G.M., additional, Argilli, Emanuela, additional, Sherr, Elliott H., additional, Elder, Fikret, additional, Buratti, Julien, additional, Keren, Boris, additional, Mignot, Cyril, additional, Héron, Delphine, additional, Mandel, Jean-Louis, additional, Gecz, Jozef, additional, Kalscheuer, Vera M., additional, Horsthemke, Bernhard, additional, Piton, Amélie, additional, and Depienne, Christel, additional

Published
2022
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23. GM3 synthase deficiency in non-Amish patients

Author

Heide, Solveig, primary, Jacquemont, Marie-Line, additional, Cheillan, David, additional, Renouil, Michel, additional, Tallot, Marilyn, additional, Schwartz, Charles E., additional, Miquel, Juliette, additional, Bintner, Marc, additional, Rodriguez, Diana, additional, Darcel, Françoise, additional, Buratti, Julien, additional, Haye, Damien, additional, Passemard, Sandrine, additional, Gras, Domitille, additional, Perrin, Laurence, additional, Capri, Yline, additional, Gérard, Bénédicte, additional, Piton, Amélie, additional, Keren, Boris, additional, Thauvin-Robinet, Christel, additional, Duffourd, Yannis, additional, Faivre, Laurence, additional, Poe, Charlotte, additional, Pervillé, Anne, additional, Héron, Delphine, additional, Thévenon, Julien, additional, Arnaud, Lionel, additional, LeGuern, Eric, additional, La Selva, Lorita, additional, Vetro, Annalisa, additional, Guerrini, Renzo, additional, Nava, Caroline, additional, and Mignot, Cyril, additional

Published
2022
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25. Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Author

Rinaldi, Berardo, primary, Ge, Yu‑Han, additional, Freri, Elena, additional, Tucci, Arianna, additional, Granata, Tiziana, additional, Estienne, Margherita, additional, Sun, Jia‑Hui, additional, Gérard, Bénédicte, additional, Bayat, Allan, additional, Efthymiou, Stephanie, additional, Gervasini, Cristina, additional, Shi, Yun Stone, additional, Houlden, Henry, additional, Marchisio, Paola, additional, and Milani, Donatella, additional

Published
2021
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26. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Author

Coursimault, Juliette, primary, Guerrot, Anne-Marie, additional, Morrow, Michelle M., additional, Schramm, Catherine, additional, Zamora, Francisca Millan, additional, Shanmugham, Anita, additional, Liu, Shuxi, additional, Zou, Fanggeng, additional, Bilan, Frédéric, additional, Le Guyader, Gwenaël, additional, Bruel, Ange-Line, additional, Denommé-Pichon, Anne-Sophie, additional, Faivre, Laurence, additional, Tran Mau-Them, Frédéric, additional, Tessarech, Marine, additional, Colin, Estelle, additional, El Chehadeh, Salima, additional, Gérard, Bénédicte, additional, Schaefer, Elise, additional, Cogne, Benjamin, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Doummar, Diane, additional, Valence, Stéphanie, additional, Héron, Delphine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Alaix, Anne-Sophie, additional, Amiel, Jeanne, additional, Colleaux, Laurence, additional, Munnich, Arnold, additional, Poirier, Karine, additional, Rio, Marlène, additional, Rondeau, Sophie, additional, Barcia, Giulia, additional, Callewaert, Bert, additional, Dheedene, Annelies, additional, Kumps, Candy, additional, Vergult, Sarah, additional, Menten, Björn, additional, Chung, Wendy K., additional, Hernan, Rebecca, additional, Larson, Austin, additional, Nori, Kelly, additional, Stewart, Sarah, additional, Wheless, James, additional, Kresge, Christina, additional, Pletcher, Beth A., additional, Caumes, Roseline, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Coubes, Christine, additional, Helm, Margaret, additional, Smith, Rosemarie, additional, Morrison, Jennifer, additional, Wheeler, Patricia G., additional, Kritzer, Amy, additional, Jouret, Guillaume, additional, Afenjar, Alexandra, additional, Deleuze, Jean-François, additional, Olaso, Robert, additional, Boland, Anne, additional, Poitou, Christine, additional, Frebourg, Thierry, additional, Houdayer, Claude, additional, Saugier-Veber, Pascale, additional, Nicolas, Gaël, additional, and Lecoquierre, François, additional

Published
2021
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27. Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Author

Rinaldi, Berardo, primary, Ge, Yu-Han, additional, Freri, Elena, additional, Tucci, Arianna, additional, Granata, Tiziana, additional, Estienne, Margherita, additional, Sun, Jia-Hui, additional, Gérard, Bénédicte, additional, Bayat, Allan, additional, Efthymiou, Stephanie, additional, Gervasini, Cristina, additional, Shi, Yun Stone, additional, Houlden, Henry, additional, Marchisio, Paola, additional, and Milani, Donatella, additional

Published
2021
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28. 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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29. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Author

Halewa, Judith, primary, Marouillat, Sylviane, additional, Dixneuf, Manon, additional, Thépault, Rose‐Anne, additional, Ung, Dévina C., additional, Chatron, Nicolas, additional, Gérard, Bénédicte, additional, Ghoumid, Jamal, additional, Lesca, Gaëtan, additional, Till, Marianne, additional, Smol, Thomas, additional, Couque, Nathalie, additional, Ruaud, Lyse, additional, Chune, Valérie, additional, Grotto, Sarah, additional, Verloes, Alain, additional, Vuillaume, Marie‐Laure, additional, Toutain, Annick, additional, Raynaud, Martine, additional, and Laumonnier, Frédéric, additional

Published
2021
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30. Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis.

Author

Guffroy, Aurélien, Dieudonné, Yannick, Gies, Vincent, Danion, François, and Study group, Korganow, Anne-Sophie, Tarabeux, Julien, Ruch, Yvon, Soulas-Sprauel, Pauline, Giorgiutti, Stéphane, Wadier, Nadège, Gérard, Bénédicte, Nourisson, Elsa, Nathan, Nadia, Legendre, Marie, Frémond, Marie-Louise, Letscher-Bru, Valérie, Kessler, Romain, and Hansmann, Yves

Subjects
PULMONARY aspergillosis, LUNG diseases, ALLELES, TYPE I interferons, MEDICAL societies, MULTIPLE organ failure
Abstract

STING GOF, interferon, aspergillosis, interstitial lung disease, primary immunodeficiency, SAVI Keywords: STING GOF; interferon; aspergillosis; SAVI; interstitial lung disease; primary immunodeficiency EN STING GOF interferon aspergillosis SAVI interstitial lung disease primary immunodeficiency 1156 1159 4 10/10/22 20220801 NES 220801 Aurélien Guffroy and Yannick Dieudonné contributed equally to this work. Segregation analysis by Sanger sequencing, in the patient and her father (patient II.4; from a tissue conserved in the pathology department), confirmed the presence of these two mutations in both patients (Fig. [Extracted from the article]

Published
2022
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32. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Author

Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot, Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric, Fiala, Elise, Grange, Dorothy, Meschino, Wendy, Hiatt, Susan, Cooper, Gregory, Olivié, Hilde, Smith, Wendy, Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan, Miramar, Dolores, van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna, Pajusalu, Sander, Õunap, Katrin, Filiano, James, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William, Hevner, Robert, Thauvin-Robinet, Christel, Couvet, Sandrine, 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), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, FHU TRANSLAD (CHU de Dijon), Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Department of Pediatrics [Seattle], University of Washington [Seattle], Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Service de Génétique [CHU Lyon] (Centre de pathologie de l'Est), Hospices civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Genetics of Neurodevelopment (GENDEV), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Service de Neurologie Pédiatrique [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Département de génétique (groupe hospitalier le Havre), Groupe Hospitalier du Havre, Centre Hospitalier Intercommunal de Créteil (CHIC), Department of Pediatrics [Philadelphia, PA, USA] (Division of Genetics), Children’s Hospital of Philadelphia (CHOP ), The Center for Applied Genomics [Philadelphia, PA, USA], Mayo Clinic [Rochester], Department of Pediatrics [Saint Louis, MO, USA] (Division of Genetics and Genomic Medicine), Washington University in Saint Louis (WUSTL), Department of Genetics [Saint-Louis], HudsonAlpha Institute for Biotechnology [Huntsville, AL], University Hospitals Leuven [Leuven], Maine Medical Center, University of British Columbia [Vancouver], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Meyer Children's Hospital [Florence, Italie], Università degli Studi di Firenze = University of Florence (UniFI), CHU Bordeaux [Bordeaux], Department of Genetics [Boston], Harvard Medical School [Boston] (HMS), University Medical Center Groningen [Groningen] (UMCG), University of Tartu, Dartmouth Hitchcock Medical Center [Lebanon, NH, USA] (DHMC), Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique chromosomique [CHU Trousseau], Service de Génétique et Biologie Moléculaires [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), GeneDx [Gaithersburg, MD, USA], Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, and Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)

Subjects
Proband, Candidate gene, INTELLECTUAL DISABILITY, MESH: Hippocampus, [SDV]Life Sciences [q-bio], MESH: Cognition, MESH: Neocortex, MESH: Child, Intellectual disability, MESH: Craniofacial Abnormalities, MESH: Animals, MESH: Syndrome, Genetics (clinical), Genetics, PROGENITORS, biology, Phenotype, NEOCORTEX, [SDV] Life Sciences [q-bio], EXPRESSION, GENES, MESH: Mutation, MESH: T-Box Domain Proteins, MESH: Autistic Disorder, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phenotype, Article, REGION, MESH: Intellectual Disability, NEUROGENESIS, Dysgenesis, FEZF2, medicine, MESH: Mice, MESH: Adolescent, MESH: Humans, MUTATIONS, business.industry, MESH: Child, Preschool, MESH: Adult, medicine.disease, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, Autism, TBR1, business, Neurocognitive, MESH: Female
Abstract

International audience; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands.

Published
2020
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33. Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype

Author

Cospain, Auriane, primary, Schaefer, Elise, additional, Faoucher, Marie, additional, Dubourg, Christèle, additional, Carré, Wilfrid, additional, Bizaoui, Varoona, additional, Assoumani, Jessica, additional, Van Maldergem, Lionel, additional, Piton, Amélie, additional, Gérard, Bénédicte, additional, Tran Mau‐Them, Frédéric, additional, Bruel, Ange‐Line, additional, Faivre, Laurence, additional, Demurger, Florence, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Fradin, Mélanie, additional, and Lavillaureix, Alinoë, additional

Published
2021
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34. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Author

Thauvin-Robinet, Christel, Munck, Anne, Huet, Frédéric, de Becdelièvre, Alix, Jimenez, Clément, Lalau, Guy, Gautier, Elodie, Rollet, Jacques, Flori, Jean, Nové-Josserand, Raphaëlle, Soufir, Jean-Claude, Haloun, Alain, Hubert, Dominique, Houssin, Elise, Bellis, Gil, Rault, Gilles, David, Albert, Janny, Laurent, Chiron, Raphaël, Rives, Nathalie, Hairion, Dominique, Collignon, Patrick, Valeri, Antoine, Karsenty, Gilles, Rossi, Annick, Audrézet, Marie-Pierre, Férec, Claude, Leclerc, Julie, Georges, Marie des, Claustres, Mireille, Bienvenu, Thierry, Gérard, Bénédicte, Boisseau, Pierre, Cabet-Bey, Faïza, Cheillan, David, Feldmann, Delphine, Clavel, Christine, Bieth, Eric, Iron, Albert, Simon-Bouy, Brigitte, Izard, Vincent, Steffann, Julie, Viville, Stéphane, Costa, Catherine, Drouineaud, Véronique, Fauque, Patricia, Binquet, Christine, Bonithon-Kopp, Claire, Morris, Mike A, Faivre, Laurence, Goossens, Michel, Roussey, Michel, Girodon, Emmanuelle, Bazin, A, Blayau, M, Bonnefont, JP, Bouligand, J, Chéry, M, Chevalier-Porst, F, Costa, JM, Coude, M, Creveaux, I, Dalstein, V, Gerson, F, Gobin-Limballe, S, Gouget, AM, Kitzis, A, Lagier-Tourenne, C, Magdelaine, C, Malinge, MC, Malzac, P, Mittre, H, Petit, V, Philippe, C, Ray, P, Raynaud, M, Ronsin, C, Schmitt, S, Albert, M, Bassinet, L, Bellon, G, Bonnefoy, S, Bourouillou, G, Bremont, F, Brechard, MP, Chardot, C, Chevalier, MC, Chiesa, J, Ciolkovitch, A, Clement, A, Corvol, H, Counil, F, Costa, P, David, V, Delacourt, C, Delafontaine, D, Delepoulle, F, Delrue, MA, Deneuville, E, Derelle, J, Desrues, B, Dominique, S, Fanton, AL, Foucaud, P, Freour, T, Froment, S, Gaillard, D, Gérardin, M, Giacomini, P, Gambert, C, Gautier, E, Ginies, JL, Ginglinger, E, Gottrand, F, Guichet, A, Guillot, M, Heraud, MC, Houriez-Bertolo, E, Jeandidier, E, Journel, H, Labarière, Lahsinat, K, Langlais, S, Languepin, J, Laurans, M, Lauton, D, Layet, V, Le Bourgeois, M, Le Lannou, D, Lejeune, H, Lenoir, G, Leroy, S, Lestrade, F, Llerena, C, Marc, B, Marchand, S, Marguet, C, Marteletti, O, Massat, G, Masurel-Paulet, A, Mely, L, Menetrey, C, Moisan-Petit, V, Montcouquiol, S, Moreau, L, Odent, S, Pagenault, M, Parent, P, Pautard, JC, Perez-Martin, S, Peter, MO, Pierre, D, Pin, I, Plessis, G, Ramel, S, Rembert-Sagot, F, Roux, C, Royere, D, Sardet, A, Sarles, J, Sermet-Gaudelus, I, Siffroi, JP, Saulnier, JP, Sehabiague, J, Sinet, PM, Tassin, E, Terro, F, Turck, D, Vodoff, MV, Wagner, L, and Weiss, L

Published
2013
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37. Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations

Author

Garde, Aurore, primary, Cornaton, Jenny, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Nicolas, Claire, additional, Juif, Christine, additional, Geneviève, David, additional, Perrin, Laurence, additional, Khau‐Van‐Kien, Philippe, additional, Smol, Thomas, additional, Vincent‐Delorme, Catherine, additional, Isidor, Bertrand, additional, Cogné, Benjamin, additional, Afenjar, Alexandra, additional, Keren, Boris, additional, Coubes, Christine, additional, Prieur, Fabienne, additional, Toutain, Annick, additional, Trousselet, Yann, additional, Bourgouin, Solène, additional, Gonin‐Olympiade, Coralie, additional, Giraudat, Kim, additional, Piton, Amélie, additional, Gérard, Bénédicte, additional, Odent, Sylvie, additional, Tessier, Fanny, additional, Lemasson, Lola, additional, Heide, Solveig, additional, Gelineau, Anne‐Claire, additional, Sarret, Catherine, additional, Miret, Anne, additional, Schaefer, Elise, additional, Piard, Juliette, additional, Mathevet, Rémi, additional, Boucon, Marion, additional, Bruel, Ange‐Line, additional, Mau‐Them, Frederic Tran, additional, Chevarin, Martin, additional, Vitobello, Antonio, additional, Philippe, Christophe, additional, Thauvin‐Robinet, Christel, additional, and Faivre, Laurence, additional

Published
2020
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38. Exome sequencing identifies the first genetic determinants of sirenomelia in humans

Author

Lecoquierre, François, primary, Brehin, Anne‐Claire, additional, Coutant, Sophie, additional, Coursimault, Juliette, additional, Bazin, Anne, additional, Finck, Wilfrid, additional, Benoist, Guillaume, additional, Begorre, Marianne, additional, Beneteau, Claire, additional, Cailliez, Daniel, additional, Chenal, Pierre, additional, De Jong, Mirjam, additional, Degré, Sophie, additional, Devisme, Louise, additional, Francannet, Christine, additional, Gérard, Bénédicte, additional, Jeanne, Corinne, additional, Joubert, Madeleine, additional, Journel, Hubert, additional, Laurichesse Delmas, Hélène, additional, Layet, Valérie, additional, Liquier, Alain, additional, Mangione, Raphaele, additional, Patrier, Sophie, additional, Pelluard, Fanny, additional, Petit, Florence, additional, Tillouche, Nadia, additional, Ravenswaaij‐Arts, Conny, additional, Frebourg, Thierry, additional, Saugier‐Veber, Pascale, additional, Gruchy, Nicolas, additional, Nicolas, Gaël, additional, and Gerard, Marion, additional

Published
2020
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46. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author

Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, et al, and University of Zurich

Subjects
Cohesin, 2716 Genetics (clinical), 1311 Genetics, 10039 Institute of Medical Genetics, Intellectual disability, STAG1, 570 Life sciences, biology, 610 Medicine & health, datasharing
Published
2017

48. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author

UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, Faivre, Laurence, UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, and Faivre, Laurence

Abstract

Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations. METHODS: Among patients referred for intellectual disability (ID) in genetics departments worldwide, array-comparative genomic hybridisation (CGH), gene panel, whole-exome sequencing or whole-genome sequencing were performed following the local diagnostic standards. RESULTS: A mutation in STAG1 was identified in 17 individuals from 16 families, 9 males and 8 females aged 2-33 years. Four individuals harboured a small microdeletion encompassing STAG1; three individuals from two families had an intragenic STAG1 deletion. Six deletions were identified by array-CGH, one by whole-exome sequencing. Whole-exome sequencing found de novo heterozygous missense or frameshift STAG1 variants in eight patients, a panel of genes involved in ID identified a missense and a frameshift variant in two individuals. The 17 patients shared common facial features, with wide mouth and deep-set eyes. Four individuals had mild microcephaly, seven had epilepsy. CONCLUSIONS: We report an international series of 17 individuals from 16 families presenting with syndromic unspecific ID that could be attributed to a STAG1 deletion or point mutation. This first series reporting the phenotype ascribed to mutation in STAG1 highlights the importance of data sharing in the field of rare disorders.

Published
2017

49. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, Faivre, Laurence, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, and Faivre, Laurence

Published
2017

50. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

Author

Ivanova, Ekaterina L., primary, Mau-Them, Frédéric Tran, additional, Riazuddin, Saima, additional, Kahrizi, Kimia, additional, Laugel, Vincent, additional, Schaefer, Elise, additional, de Saint Martin, Anne, additional, Runge, Karen, additional, Iqbal, Zafar, additional, Spitz, Marie-Aude, additional, Laura, Mary, additional, Drouot, Nathalie, additional, Gérard, Bénédicte, additional, Deleuze, Jean-François, additional, de Brouwer, Arjan P.M., additional, Razzaq, Attia, additional, Dollfus, Hélène, additional, Assir, Muhammad Zaman, additional, Nitchké, Patrick, additional, Hinckelmann, Maria-Victoria, additional, Ropers, Hilger, additional, Riazuddin, Sheikh, additional, Najmabadi, Hossein, additional, van Bokhoven, Hans, additional, and Chelly, Jamel, additional

Published
2017
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