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1. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Author

Peron, Angela, D’Arco, Felice, Aldinger, Kimberly A., Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A., Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F., Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M., Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M., Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J., Earl, Dawn L., Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J., Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D., Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J., Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S., Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M., Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M., Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B. A., Guillemot, Francois, Dobyns, William B., Viskochil, David, and Dias, Cristina

Published
2024
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2. 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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3. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Author

Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal, Cabrol, Christelle, Cilio, Maria, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, and Piard, Juliette

Subjects
Humans, Nuclear Proteins, Epilepsy, Phenotype, Genotype, Genetic Association Studies, Neurodegenerative Diseases, Atrophy
Abstract

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). Thirty-eight individuals presented a non-lethal phenotype of BRAT1-related NEDCAS phenotype. Seventy-six percent of the patients in this group were able to walk and 68% were able to say at least a few words. Most of them had cerebellar ataxia (82%), axial hypotonia (79%) and cerebellar atrophy (100%). Genotype-phenotype correlations in our cohort revealed that biallelic nonsense, frameshift or inframe deletion/insertion variants result in the severe BRAT1-related RMFSL phenotype (46/46; 100%). In contrast, genotypes with at least one missense were more likely associated with NEDCAS (28/34; 82%). The phenotype of patients carrying splice variants was variable: 41% presented with RMFSL (7/17) and 59% with NEDCAS (10/17).

Published
2023

4. 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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5. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Author

Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, and Chen, Xiaoli

Published
2024
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6. 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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7. 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

8. 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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9. Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France

Author

Lançon, Allan, Beaudouin, Amandine, Lambert, Laetitia, Baurand, Amandine, Petit, Estelle, Schaefer, Elise, Poirsier, Céline, Piard, Juliette, Patay, Léa, Garde, Aurore, Bournez, Marie, Bertolone, Geoffrey, Kastner, Claire, Tempé, Laurine, El Chehadeh, Salima, Spodenkiewick, Marta, Lissy, Lola, Doco-Fenzy, Martine, Cabrol, Christelle, Trouvé, Chloé, Brischoux, Elise Boucher, Cloteau, Mélanie, Burtin, Alexia, Renaud, Mathilde, Riviere, Axelle, Thomas, Quentin, De Souza, Clément Simao, Sawka, Caroline, Racine, Caroline, Robert, Marion, Gautier, Elodie, Delanne, Julian, Bertaut, Aurélie, Thauvin-Robinet, Christel, Faivre, Laurence, and Nambot, Sophie

Published
2023
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10. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

Author

Serey-Gaut, Margaux, Cortes, Marisol, Makrythanasis, Periklis, Suri, Mohnish, Taylor, Alexander M.R., Sullivan, Jennifer A., Asleh, Ayat N., Mitra, Jaba, Dar, Mohamad A., McNamara, Amy, Shashi, Vandana, Dugan, Sarah, Song, Xiaofei, Rosenfeld, Jill A., Cabrol, Christelle, Iwaszkiewicz, Justyna, Zoete, Vincent, Pehlivan, Davut, Akdemir, Zeynep Coban, Roeder, Elizabeth R., Littlejohn, Rebecca Okashah, Dibra, Harpreet K., Byrd, Philip J., Stewart, Grant S., Geckinli, Bilgen B., Posey, Jennifer, Westman, Rachel, Jungbluth, Chelsy, Eason, Jacqueline, Sachdev, Rani, Evans, Carey-Anne, Lemire, Gabrielle, VanNoy, Grace E., O’Donnell-Luria, Anne, Mau-Them, Frédéric Tran, Juven, Aurélien, Piard, Juliette, Nixon, Cheng Yee, Zhu, Ying, Ha, Taekjip, Buckley, Michael F., Thauvin, Christel, Essien Umanah, George K., Van Maldergem, Lionel, Lupski, James R., Roscioli, Tony, Dawson, Valina L., Dawson, Ted M., and Antonarakis, Stylianos E.

Published
2023
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11. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Author

Capri, Yline, Flex, Elisabetta, Krumbach, Oliver HF, Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R, Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C, Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S, Dvorsky, Radovan, Monaghan, Kristin G, Vincent, Lisa M, Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R, Tartaglia, Marco, and Zenker, Martin

Subjects
Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Adult, Child, Female, Gain of Function Mutation, Genetic Association Studies, Guanosine Triphosphate, HEK293 Cells, Humans, Infant, Infant, Newborn, Male, Membrane Proteins, Monomeric GTP-Binding Proteins, Noonan Syndrome, Pedigree, Protein Conformation, MAPK, Noonan syndrome, RAS, RASopathies, RRAS2, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development. Signaling through RAS and the MAPK cascade controls a variety of cell decisions in response to cytokines, hormones, and growth factors, and its upregulation causes Noonan syndrome (NS), a developmental disorder whose major features include a distinctive facies, a wide spectrum of cardiac defects, short stature, variable cognitive impairment, and predisposition to malignancies. NS is genetically heterogeneous, and mutations in more than ten genes have been reported to underlie this disorder. Despite the large number of genes implicated, about 10%-20% of affected individuals with a clinical diagnosis of NS do not have mutations in known RASopathy-associated genes, indicating that additional unidentified genes contribute to the disease, when mutated. By using a mixed strategy of functional candidacy and exome sequencing, we identify RRAS2 as a gene implicated in NS in six unrelated subjects/families. We show that the NS-causing RRAS2 variants affect highly conserved residues localized around the nucleotide binding pocket of the GTPase and are predicted to variably affect diverse aspects of RRAS2 biochemical behavior, including nucleotide binding, GTP hydrolysis, and interaction with effectors. Additionally, all pathogenic variants increase activation of the MAPK cascade and variably impact cell morphology and cytoskeletal rearrangement. Finally, we provide a characterization of the clinical phenotype associated with RRAS2 mutations.

Published
2019

12. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Author

Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Jr., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, and Weksberg, Rosanna

Published
2022
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13. Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

Author

Billes, Alexis, Pujalte, Mathilde, Jedraszak, Guillaume, Amsallem, Daniel, Boudry‐Labis, Elise, Boute, Odile, Bouquillon, Sonia, Brischoux‐Boucher, Elise, Callier, Patrick, Coutton, Charles, Denizet, Anne‐Laude Avice, Dieterich, Klaus, Kuentz, Paul, Lespinasse, James, Mazel, Benoît, Morin, Gilles, Amram, Florence, Pennamen, Perrine, Rio, Marlène, and Piard, Juliette

Subjects
HOMOLOGOUS recombination, FACIAL abnormalities, INTELLECTUAL disabilities, DISEASE relapse, UNIVERSITY hospitals
Abstract

Xq28 int22h‐1/int22h‐2 duplication is the result of non‐allelic homologous recombination between int22h‐1/int22h‐2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance. We collected data on 15 families from eight university hospitals. Among them, 40 patients, 21 females (one fetus), and 19 males (two fetuses), were carriers of typical or atypical Xq28 int22h‐1/int22h‐2 duplication. Twenty‐one individuals were considered asymptomatic (16 females and 5 males), without significantly higher rate of recurrent infections, atopia, overweight, or facial dysmorphism. Approximately 67% live‐born males and 23% live‐born female carriers of the typical duplication did not have obvious signs of intellectual disability, suggesting previously undescribed incomplete penetrance or low expression in certain carriers. The possibility of a second‐hit or modifying factors to this possible susceptibility locus is yet to be studied but a possible observational bias should be considered in assessing such challenging X‐chromosome copy number gains. Additional segregation studies should help to quantify this newly described incomplete penetrance. [ABSTRACT FROM AUTHOR]

Published
2024
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14. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Author

Gong, Maolei, primary, Li, Jiayi, additional, Liu, Yijun, additional, Matheus, Vernet Machado Bressan Wilk, additional, Li, Qian, additional, Liu, Haoran, additional, Liang, Chen, additional, Joel A, Morales-Rosado, additional, Cohen, Ana S.A., additional, Hughes, Susan S., additional, Sullivan, Bonnie R, additional, Waddell, Valerie, additional, Henriette van den Boogaard, Marie Jose, additional, van Jaarsveld, Richard H., additional, Binsbergen, Ellen van, additional, van Gassen, Koen L, additional, Wang, Tianyun, additional, Hiatt, Susan M., additional, Amaral, Michelle D., additional, Kelley, Whitley V., additional, Zhao, Jianbo, additional, Feng, Weixing, additional, Ren, Changhong, additional, Yu, Yazhen, additional, Boczek, Nicole J, additional, Ferber, Matthew J., additional, Lahner, Carrie, additional, Elliott, Sherr, additional, Ruan, Yiyan, additional, Mignot, Cyril, additional, Keren, Boris, additional, Xie, Hua, additional, Wang, Xiaoyan, additional, Popp, Bernt, additional, Zweier, Christiane, additional, Piard, Juliette, additional, Coubes, Christine, additional, Tran-Mau-Them, Frederic, additional, Safraou, Hana, additional, Innes, Micheil, additional, Gauthier, Julie, additional, Michaud, Jacques L, additional, Koboldt, Daniel C., additional, Sylvie, ODENT, additional, Willems, Marjolaine, additional, Tan, Wen-Hann, additional, Cogne, Benjamin, additional, Rieubland, Claudine, additional, Braun, Dominique, additional, McLean, Scott Douglas, additional, Platzer, Konrad, additional, Zacher, Pia, additional, Oppermann, Henry, additional, Evenepoel, Lucie, additional, BLANC, Pierre, additional, Khattabi, Laila El, additional, Haque, Neshatul, additional, Dsouza, Nikita R., additional, Zimmermann, Michael T, additional, Urrutia, Raul A, additional, Klee, Eric W, additional, Shen, Yiping, additional, Du, Hong-Zhen, additional, Qin, Zailong, additional, Liu, Chang-Mei, additional, and chen, xiaoli, additional

Published
2024
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15. Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome

Author

Kuentz, Paul, primary, Engel, Camille, additional, Laeng, Mathieu, additional, Chevarin, Martin, additional, Duffourd, Yannis, additional, Martel, Jéhanne, additional, Piard, Juliette, additional, Morice-Picard, Fanny, additional, Aubert, Helene, additional, Bessis, Didier, additional, Guerrot, Anne-Marie, additional, Maruani, Annabel, additional, Boccara, Olivia, additional, Mazereeuw-Hautier, Juliette, additional, Ott, Hagen, additional, Phan, Alice, additional, Puzenat, Eve, additional, Quelin, Chloe, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, and Vabres, Pierre, additional

Published
2024
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16. Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Author

Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, and Van Maldergem, Lionel

Published
2021
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19. Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities

Author

Engel, Camille, primary, Chevarin, Martin, additional, Piard, Juliette, additional, Abad, Marine, additional, Thomas, Quentin, additional, Carmignac, Virginie, additional, Duffourd, Yannis, additional, Lemesle‐Martin, Martine, additional, Tarris, Georges, additional, Thauvin‐Robinet, Christel, additional, Vabres, Pierre, additional, Faivre, Laurence, additional, and Kuentz, Paul, additional

Published
2024
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20. A clinical scoring system for congenital contractural arachnodactyly

Author

Meerschaut, Ilse, De Coninck, Shana, Steyaert, Wouter, Barnicoat, Angela, Bayat, Allan, Benedicenti, Francesco, Berland, Siren, Blair, Edward M., Breckpot, Jeroen, de Burca, Anna, Destrée, Anne, García-Miñaúr, Sixto, Green, Andrew J., Hanna, Bernadette C., Keymolen, Kathelijn, Koopmans, Marije, Lederer, Damien, Lees, Melissa, Longman, Cheryl, Lynch, Sally Ann, Male, Alison M., McKenzie, Fiona, Migeotte, Isabelle, Mihci, Ercan, Nur, Banu, Petit, Florence, Piard, Juliette, Plasschaert, Frank S., Rauch, Anita, Ribaï, Pascale, Pacheco, Iratxe Salcedo, Stanzial, Franco, Stolte-Dijkstra, Irene, Valenzuela, Irene, Varghese, Vinod, Vasudevan, Pradeep C., Wakeling, Emma, Wallgren-Pettersson, Carina, Coucke, Paul, De Paepe, Anne, De Wolf, Daniël, Symoens, Sofie, and Callewaert, Bert

Published
2020
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23. 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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24. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Author

Picketts, David, primary, Mirzaa, Ghayda, additional, Yan, Keqin, additional, Relator, Raissa, additional, Timpano, Sara, additional, Yalcin, Binnaz, additional, Collins, Stephan, additional, Ziegler, Alban, additional, Pao, Emily, additional, Oyama, Nora, additional, Brischoux-Boucher, Elise, additional, PIARD, Juliette, additional, Monaghan, Kristin, additional, Sacoto, Maria Guillen, additional, Dobyns, William, additional, Park, Kristen, additional, Fernández-Mayoralas, Daniel, additional, Fernández-Jaén, Alberto, additional, Jayakar, Parul, additional, Brusco, Alfredo, additional, Antona, Vincenzo, additional, Giorgio, Elisa, additional, Kvarnung, Malin, additional, Isidor, Bertrand, additional, Conrad, Solène, additional, Cogné, Benjamin, additional, Deb, Wallid, additional, Stuurman, K.E., additional, Sterbova, Katalin, additional, Smal, Noor, additional, Weckhuysen, Sarah, additional, Oegema, Renske, additional, Innes, Micheil, additional, Latsko, Maeson, additional, Ben-Omran, Tawfeg, additional, Yeh, Rebecca, additional, Kruer, Michael, additional, Bakhtiari, Somayeh, additional, Papavasiliou, Antigone, additional, Moutton, Sébastien, additional, Nambot, Sophie, additional, Chanprasert, Sirisak, additional, Paolucci, Sarah, additional, Miller, Kait, additional, Burton, Barbara, additional, Kim, Katherine, additional, O'Heir, Emily, additional, Bruwer, Zandre, additional, Donald, Kirsten, additional, Kleefstra, Tjitske, additional, Goldstein, Amy, additional, Angle, Brad, additional, Bontempo, Kelly, additional, Miny, Peter, additional, Joset, Pascal, additional, Demurger, Florence, additional, Hobson, Emma, additional, Pang, Lewis, additional, Carpenter, Lori, additional, Li, Dong, additional, Bonneau, Dominique, additional, and Sadikovic, Bekim, additional

Published
2023
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25. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Author

Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, DDD Study, Kini, Usha, and Philippe, Christophe

Published
2019
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26. Non‐motor symptoms and quality of life in patients with PRRT2 ‐related paroxysmal kinesigenic dyskinesia

Author

Ekmen, Asya, primary, Doulazmi, Mohamed, additional, Méneret, Aurélie, additional, Jegatheesan, Prasanthi, additional, Hervé, Anais, additional, Damier, Philippe, additional, Gras, Domitille, additional, Roubertie, Agathe, additional, Piard, Juliette, additional, Mutez, Eugenie, additional, Tarrano, Clément, additional, Welniarz, Quentin, additional, Vidailhet, Marie, additional, Worbe, Yulia, additional, Gallea, Cécile, additional, and Roze, Emmanuel, additional

Published
2023
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27. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Author

Genetica Klinische Genetica, Brain, Child Health, Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim, Genetica Klinische Genetica, Brain, Child Health, Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, and Sadikovic, Bekim

Published
2023

28. 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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29. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

Author

Jacquier, Arnaud, primary, Theuriet, Julian, additional, Fontaine, Fanny, additional, Mosbach, Valentine, additional, Lacoste, Nicolas, additional, Ribault, Shams, additional, Risson, Valérie, additional, Carras, Julien, additional, Coudert, Laurent, additional, Simonet, Thomas, additional, Latour, Philippe, additional, Stojkovic, Tanya, additional, Piard, Juliette, additional, Cosson, Anne, additional, Lesca, Gaëtan, additional, Bouhour, Françoise, additional, Allouche, Stéphane, additional, Puccio, Hélène, additional, Pegat, Antoine, additional, and Schaeffer, Laurent, additional

Published
2022
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30. Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Author

Heddar, Abdelkader, primary, Ogur, Cagri, additional, Da Costa, Sabrina, additional, Braham, Inès, additional, Billaud-Rist, Line, additional, Findikli, Necati, additional, Beneteau, Claire, additional, Reynaud, Rachel, additional, Mahmoud, Khaled, additional, Legrand, Stéphanie, additional, Marchand, Maud, additional, Cedrin-Durnerin, Isabelle, additional, Cantalloube, Adèle, additional, Peigne, Maeliss, additional, Bretault, Marion, additional, Dagher-Hayeck, Benedicte, additional, Perol, Sandrine, additional, Droumaguet, Celine, additional, Cavkaytar, Sabri, additional, Nicolas-Bonne, Carole, additional, Elloumi, Hanen, additional, Khrouf, Mohamed, additional, Rougier-LeMasle, Charlotte, additional, Fradin, Melanie, additional, Le Boette, Elsa, additional, Luigi, Perrine, additional, Guerrot, Anne-Marie, additional, Ginglinger, Emmanuelle, additional, Zampa, Amandine, additional, Fauconnier, Anais, additional, Auger, Nathalie, additional, Paris, Françoise, additional, Brischoux-Boucher, Elise, additional, Cabrol, Christelle, additional, Brun, Aurore, additional, Guyon, Laura, additional, Berard, Melanie, additional, Riviere, Axelle, additional, Gruchy, Nicolas, additional, Odent, Sylvie, additional, Gilbert-Dussardier, Brigitte, additional, Isidor, Bertrand, additional, Piard, Juliette, additional, Lambert, Laetitia, additional, Hamamah, Samir, additional, Guedj, Anne Marie, additional, Brac de la Perriere, Aude, additional, Fernandez, Hervé, additional, Raffin-Sanson, Marie-Laure, additional, Polak, Michel, additional, Letur, Hélène, additional, Epelboin, Sylvie, additional, Plu-Bureau, Genevieve, additional, Wołczyński, Sławomir, additional, Hieronimus, Sylvie, additional, Aittomaki, Kristiina, additional, Catteau-Jonard, Sophie, additional, and Misrahi, Micheline, additional

Published
2022
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31. Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features

Author

Kornak, Uwe, primary, Saha, Namrata, additional, Keren, Boris, additional, Neumann, Alexander, additional, Taylor Tavares, Ana Lisa, additional, Piard, Juliette, additional, Kopp, Johannes, additional, Rodrigues Alves, João Guilherme, additional, Rodríguez de los Santos, Miguel, additional, El Choubassi, Naji, additional, Ehmke, Nadja, additional, Jäger, Marten, additional, Spielmann, Malte, additional, Pantel, Jean Tori, additional, Lejeune, Elodie, additional, Fauler, Beatrix, additional, Mielke, Thorsten, additional, Hecht, Jochen, additional, Meierhofer, David, additional, Strom, Tim M., additional, Laugel, Vincent, additional, Brice, Alexis, additional, Mundlos, Stefan, additional, Bertoli-Avella, Aida, additional, Bauer, Peter, additional, Heyd, Florian, additional, Boute, Odile, additional, Dupont, Juliette, additional, Depienne, Christel, additional, Van Maldergem, Lionel, additional, and Fischer-Zirnsak, Björn, additional

Published
2022
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34. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

Author

Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, and Schaeffer, Laurent

Subjects
MOTOR neuron diseases, UBIQUINONES, SKIN biopsy, DEVELOPMENTAL delay, SIBLINGS
Abstract

Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G > T (p.1Met? ) was identified in the COQ7 gene. This gene encodes a protein required for Coenzyme Q10 biosynthesis, a component of the respiratory chain in mitochondria. Mutations of COQ7 were previously associated with severe multi-organ disorders characterized by early childhood onset and developmental delay. Using patient blood sample and fibroblasts derived from a skin biopsy, we investigated the pathogenicity of the variant of unknown significance c.3G > T (p.1Met? ) in the COQ7 gene and the effect of Coenzyme Q10 supplementation in vitro. We showed that this variation leads to a severe decrease in COQ7 protein levels in the patient's fibroblasts, resulting in a decrease in Coenzyme Q10 production, and in the accumulation of 6-demethoxycoenzyme Q10, the COQ7 substrate. Interestingly, such accumulation was also found in the patient's plasma. Normal Coenzyme Q10 and 6-demethoxycoenzyme Q10 levels were restored in vitro by using the Coenzyme Q10 precursor 2,4-dihydroxybenzoic acid, thus bypassing COQ7 requirement. Coenzyme Q10 biosynthesis deficiency is known to impair mitochondrial respiratory chain. Seahorse experiments showed that the patient's cells mainly rely on glycolysis to maintain sufficient ATP production. Consistently, the replacement of glucose by galactose in the culture medium of these cells reduced their proliferation rate. Interestingly, normal proliferation was restored by Coenzyme Q10 supplementation in the culture medium, suggesting a therapeutic avenue for these patients. Altogether, we have identified the first example of recessive distal hereditary motor neuropathy caused by a homozygous variation in the COQ7 gene, which should thus be included in the gene panels used to diagnose peripheral inherited neuropathies. Furthermore, 6-demethoxycoenzyme Q10 accumulation in the blood can be used to confirm the pathogenic nature of the mutation. Finally, supplementation with Coenzyme Q10 or derivatives should be considered to prevent the progression of COQ7-related peripheral inherited neuropathy in diagnosed patients. [ABSTRACT FROM AUTHOR]

Published
2023
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36. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Author

Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, Abiusi, Emanuela (ORCID:0000-0001-9028-012X), Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klau, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanisla, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulu, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Loui, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith, and Abiusi, Emanuela (ORCID:0000-0001-9028-012X)

Abstract

Background Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families. Methods Several genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants. Results We achieved disease gene identification in 52.7% of AMC index patients including nine recently identified genes (CNTNAP1, MAGEL2, ADGRG6, ADCY6, GLDN, LGI4, LMOD3, UNC50 and SCN1A). Moreover, we identified pathogenic variants in ASXL3 and STAC3 expanding the phenotypes associated with these genes. The most frequent cause of AMC was a primary involvement of skeletal muscle (40%) followed by brain (22%). The most frequent mode of inheritance is autosomal recessive (66.3% of patients). In sporadic patients born to non-consanguineous parents (n=60), de novo dominant autosomal or X linked variants were observed in 30 of them (50%). Conclusion New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes.

Published
2022

37. Cerebellum Dysfunction in Patients With PRRT2 -Related Paroxysmal Dyskinesia

Author

Ekmen, Asya, primary, Meneret, Aurelie, additional, Valabregue, Romain, additional, Beranger, Benoit, additional, Worbe, Yulia, additional, Lamy, Jean-Charles, additional, Mehdi, Sofien, additional, Herve, Anais, additional, Adanyeguh, Isaac, additional, Temiz, Gizem, additional, Damier, Philippe, additional, Gras, Domitille, additional, Roubertie, Agathe, additional, Piard, Juliette, additional, Navarro, Vincent, additional, Mutez, Eugenie, additional, Riant, Florence, additional, Welniarz, Quentin, additional, Vidailhet, Marie, additional, Lehericy, Stephane, additional, Meunier, Sabine, additional, Gallea, Cecile, additional, and Roze, Emmanuel, additional

Published
2022
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38. 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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41. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Author

Laquerriere, Annie, primary, Jaber, Dana, additional, Abiusi, Emanuela, additional, Maluenda, Jérome, additional, Mejlachowicz, Dan, additional, Vivanti, Alexandre, additional, Dieterich, Klaus, additional, Stoeva, Radka, additional, Quevarec, Loic, additional, Nolent, Flora, additional, Biancalana, Valerie, additional, Latour, Philippe, additional, Sternberg, Damien, additional, Capri, Yline, additional, Verloes, Alain, additional, Bessieres, Bettina, additional, Loeuillet, Laurence, additional, Attie-Bitach, Tania, additional, Martinovic, Jelena, additional, Blesson, Sophie, additional, Petit, Florence, additional, Beneteau, Claire, additional, Whalen, Sandra, additional, Marguet, Florent, additional, Bouligand, Jerome, additional, Héron, Delphine, additional, Viot, Géraldine, additional, Amiel, Jeanne, additional, Amram, Daniel, additional, Bellesme, Céline, additional, Bucourt, Martine, additional, Faivre, Laurence, additional, Jouk, Pierre-Simon, additional, Khung, Suonavy, additional, Sigaudy, Sabine, additional, Delezoide, Anne-Lise, additional, Goldenberg, Alice, additional, Jacquemont, Marie-Line, additional, Lambert, Laetitia, additional, Layet, Valérie, additional, Lyonnet, Stanislas, additional, Munnich, Arnold, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Guimiot, Fabien, additional, Landrieu, Pierre, additional, Letard, Pascaline, additional, Pelluard, Fanny, additional, Perrin, Laurence, additional, Saint-Frison, Marie-Hélène, additional, Topaloglu, Haluk, additional, Trestard, Laetitia, additional, Vincent-Delorme, Catherine, additional, Amthor, Helge, additional, Barnerias, Christine, additional, Benachi, Alexandra, additional, Bieth, Eric, additional, Boucher, Elise, additional, Cormier-Daire, Valerie, additional, Delahaye-Duriez, Andrée, additional, Desguerre, Isabelle, additional, Eymard, Bruno, additional, Francannet, Christine, additional, Grotto, Sarah, additional, Lacombe, Didier, additional, Laffargue, Fanny, additional, Legendre, Marine, additional, Martin-Coignard, Dominique, additional, Mégarbané, André, additional, Mercier, Sandra, additional, Nizon, Mathilde, additional, Rigonnot, Luc, additional, Prieur, Fabienne, additional, Quélin, Chloé, additional, Ranjatoelina-Randrianaivo, Hanitra, additional, Resta, Nicoletta, additional, Toutain, Annick, additional, Verhelst, Helene, additional, Vincent, Marie, additional, Colin, Estelle, additional, Fallet-Bianco, Catherine, additional, Granier, Michèle, additional, Grigorescu, Romulus, additional, Saada, Julien, additional, Gonzales, Marie, additional, Guiochon-Mantel, Anne, additional, Bessereau, Jean-Louis, additional, Tawk, Marcel, additional, Gut, Ivo, additional, Gitiaux, Cyril, additional, and Melki, Judith, additional

Published
2021
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42. 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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43. Alternative splicing of BUD13determines the severity of a developmental disorder with lipodystrophy and progeroid features

Author

Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, and Fischer-Zirnsak, Björn

Abstract

In this study we aimed to identify the molecular genetic cause of a progressive multisystem disease with prominent lipodystrophy.

Published
2022
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44. Cerebellum Dysfunction in Patients With -Related Paroxysmal Dyskinesia.

Author

Ekmen, Asya, Meneret, Aurelie, Valabregue, Romain, Beranger, Benoit c, Worbe, Yulia, Lamy, Jean-Charles, Mehdi, Sofien BTech, Herve, Anais, Adanyeguh, Isaac, Temiz, Gizem c, Damier, Philippe, Gras, Domitille, Roubertie, Agathe, Piard, Juliette, Navarro, Vincent, Mutez, Eugenie, Riant, Florence, Welniarz, Quentin, Vidailhet, Marie, and Lehericy, Stephane

Published
2022
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46. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Author

Whalen, Sandra, Héron, Delphine, Gaillon, Thierry, Moldovan, Oana, Rossi, Massimiliano, Devillard, Françoise, Giuliano, Fabienne, Soares, Gabriela, Mathieu-Dramard, Michelle, Afenjar, Alexandra, Charles, Perrine, Mignot, Cyril, Burglen, Lydie, Van Maldergem, Lionel, Piard, Juliette, Aftimos, Salim, Mancini, Grazia, Dias, Patricia, Philip, Nicole, Goldenberg, Alice, Le Merrer, Martine, Rio, Marlène, Josifova, Dragana, Van Hagen, Johanna Maria, Lacombe, Didier, Edery, Patrick, Dupuis-Girod, Sophie, Putoux, Audrey, Sanlaville, Damien, Fischer, Richard, Drévillon, Loïc, Briand-Suleau, Audrey, Metay, Corinne, Goossens, Michel, Amiel, Jeanne, Jacquette, Aurelia, and Giurgea, Irina

Published
2012
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48. Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

Author

Liu, Hui, primary, Giguet‐Valard, Anna‐Gaëlle, additional, Simonet, Thomas, additional, Szenker‐Ravi, Emmanuelle, additional, Lambert, Laetitia, additional, Vincent‐Delorme, Catherine, additional, Scheidecker, Sophie, additional, Fradin, Mélanie, additional, Morice‐Picard, Fanny, additional, Naudion, Sophie, additional, Ciorna‐Monferrato, Viorica, additional, Colin, Estelle, additional, Fellmann, Florence, additional, Blesson, Sophie, additional, Jouk, Pierre‐Simon, additional, Francannet, Christine, additional, Petit, Florence, additional, Moutton, Sébastien, additional, Lehalle, Daphné, additional, Chassaing, Nicolas, additional, El Zein, Loubna, additional, Bazin, Anne, additional, Bénéteau, Claire, additional, Attié‐Bitach, Tania, additional, Hanu, Sylvie M., additional, Brechard, Marie‐Pierre, additional, Chiesa, Jean, additional, Pasquier, Laurent, additional, Rooryck, Caroline, additional, Van Maldergem, Lionel, additional, Cabrol, Christelle, additional, El Chehadeh, Salima, additional, Vasiljevic, Alexandre, additional, Isidor, Bertrand, additional, Abel, Carine, additional, Thevenon, Julien, additional, Di Filippo, Sylvie, additional, Vigouroux‐Castera, Adeline, additional, Attia, Jocelyne, additional, Quelin, Chloé, additional, Odent, Sylvie, additional, Piard, Juliette, additional, Giuliano, Fabienne, additional, Putoux, Audrey, additional, Khau Van Kien, Philippe, additional, Yardin, Catherine, additional, Touraine, Renaud, additional, Reversade, Bruno, additional, and Bouvagnet, Patrice, additional

Published
2020
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49. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Author

Cappuccio, Gerarda, primary, Sayou, Camille, additional, Tanno, Pauline Le, additional, Tisserant, Emilie, additional, Bruel, Ange-Line, additional, Kennani, Sara El, additional, Sá, Joaquim, additional, Low, Karen J., additional, Dias, Cristina, additional, Havlovicová, Markéta, additional, Hančárová, Miroslava, additional, Eichler, Evan E., additional, Devillard, Françoise, additional, Moutton, Sébastien, additional, Van-Gils, Julien, additional, Dubourg, Christèle, additional, Odent, Sylvie, additional, Gerard, Bénédicte, additional, Piton, Amélie, additional, Yamamoto, Toshiyuki, additional, Okamoto, Nobuhiko, additional, Firth, Helen, additional, Metcalfe, Kay, additional, Moh, Anna, additional, Chapman, Kimberly A., additional, Aref-Eshghi, Erfan, additional, Kerkhof, Jennifer, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Perrin, Laurence, additional, Piard, Juliette, additional, Le Guyader, Gwenaël, additional, Jouan, Thibaud, additional, Thauvin-Robinet, Christel, additional, Duffourd, Yannis, additional, George-Abraham, Jaya K., additional, Buchanan, Catherine A., additional, Williams, Denise, additional, Kini, Usha, additional, Wilson, Kate, additional, Brunetti-Pierri, Nicola, additional, Casari, Giorgio, additional, Cappuccio, Gerarda, additional, Pinelli, Michele, additional, Musacchia, Francesco, additional, Mutarelli, Margherita, additional, Carrella, Diego, additional, Vitiello, Giuseppina, additional, Capra, Valeria, additional, Parenti, Giancarlo, additional, Leuzzi, Vincenzo, additional, Selicorni, Angelo, additional, Maitz, Silvia, additional, Banfi, Sandro, additional, Zollino, Marcella, additional, Montomoli, Mario, additional, Milani, Donatelli, additional, Romano, Corrado, additional, Tummolo, Albina, additional, De Brasi, Daniele, additional, Coppola, Antonietta, additional, Santoro, Claudia, additional, Peron, Angela, additional, Pantaleoni, Chiara, additional, Castello, Raffaele, additional, D’Arrigo, Stefano, additional, Sousa, Sérgio B., additional, Hennekam, Raoul C.M., additional, Sadikovic, Bekim, additional, Thevenon, Julien, additional, Govin, Jérôme, additional, and Vitobello, Antonio, additional

Published
2020
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50. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

Author

Piard, Juliette, primary, Béreau, Matthieu, additional, XiangWei, Wenshu, additional, Wirth, Thomas, additional, Amsallem, Daniel, additional, Buisson, Lauren, additional, Richard, Philippe, additional, Liu, Nana, additional, Xu, Yuchen, additional, Myers, Scott J., additional, Traynelis, Stephen F., additional, Chelly, Jameleddine, additional, Anheim, Mathieu, additional, Raynaud, Martine, additional, Maldergem, Lionel Van, additional, and Yuan, Hongjie, additional

Published
2020
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