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

Author

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

Published
2024
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4. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Author

Yang, Fang, Begemann, Anais, Reichhart, Nadine, Haeckel, Akvile, Steindl, Katharina, Schellenberger, Eyk, Sturm, Ronja Fini, Barth, Magalie, Bassani, Sissy, Boonsawat, Paranchai, Courtin, Thomas, Delobel, Bruno, Gunning, Boudewijn, Hardies, Katia, Jennesson, Mélanie, Legoff, Louis, Linnankivi, Tarja, Prouteau, Clément, Smal, Noor, Spodenkiewicz, Marta, Toelle, Sandra P., Van Gassen, Koen, Van Paesschen, Wim, Verbeek, Nienke, Ziegler, Alban, Zweier, Markus, Horn, Anselm H.C., Sticht, Heinrich, Lerche, Holger, Weckhuysen, Sarah, Strauß, Olaf, and Rauch, Anita

Published
2024
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5. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Author

Van Haute, Lindsey, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran, Hock, Daniella H., Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Caruana, Nikeisha J., Dominik, Natalia, Goel, Himanshu, Helman, Guy, Houlden, Henry, Lenaers, Guy, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A., Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio, Rebelo-Guiomar, Pedro, Simons, Cas, Vengalil, Seena, Zaki, Maha S., Ziegler, Alban, Thorburn, David R., Stroud, David A., Maroofian, Reza, Christodoulou, John, Gustafsson, Claes, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal, and Horvath, Rita

Published
2023
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6. X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation

Author

Buffet, Alexandre, Filser, Mathilde, Bruel, Alexandra, Dard, Rodolphe, Quibel, Thibaud, Dubucs, Charlotte, Kwon, Theresa, Le Tanno, Pauline, Thevenon, Julien, Ziegler, Alban, Allard, Lise, Guigonis, Vincent, Roux, Jean-Jacques, Heidet, Laurence, Rougeulle, Claire, Boyer, Olivia, Vargas-Poussou, Rosa, and Hureaux, Marguerite

Published
2024
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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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8. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Author

Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, and Vaz, Frédéric M

Subjects
Undiagnosed Diseases Network, Humans, Spastic Paraplegia, Hereditary, Ethers, Aldehyde Oxidoreductases, Lipids, Phenotype, Neurosciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Neurological, Genetics & Heredity, Clinical Sciences
Abstract

PurposeIn this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu).MethodsFollowing next-generation sequencing and clinical phenotyping, functional characterization was performed in patients' fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics.ResultsAll patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.ConclusionHeterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts.

Published
2021

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

Author

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

Published
2022
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11. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish

Author

Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V., Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J., Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, and Tartaglia, Marco

Published
2022
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12. De Novo Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase Activity.

Author

Takatsu, Hiroyuki, Nishimura, Narumi, Kosugi, Yusuke, Ogawa, Haruo, Nakayama, Kazuhisa, Colin, Estelle, Platzer, Konrad, Abou Jamra, Rami, Redler, Silke, Prouteau, Clément, Ziegler, Alban, and Shin, Hye-Won

Subjects
AMINO acid residues, BIOLOGICAL membranes, CELL membranes, PHOSPHATIDYLSERINES, LECITHIN
Abstract

P4-ATPases comprise a family of lipid flippases that translocate lipids from the exoplasmic (or luminal) to the cytoplasmic leaflet of biological membranes. Of the 14 known human P4-ATPases, ATP8B2 is a phosphatidylcholine flippase at the plasma membrane, but its physiological function is not well understood. Although ATP8B2 could interact with both CDC50A and CDC50B, it required only the CDC50A interaction for its exit from the endoplasmic reticulum and subsequent transport to the plasma membrane. Three de novo monoallelic missense variations of ATP8B2 were found in patients with intellectual disability. None of these variations affected the interaction of ATP8B2 with CDC50A or its localization to the plasma membrane. However, variations of either of two amino acid residues, which are conserved in all P4-ATPases, significantly reduced the phosphatidylcholine flippase activity of ATP8B2. Furthermore, mutations in the corresponding residues of ATP8B1 and ATP11C were found to decrease their flippase activities toward phosphatidylcholine and phosphatidylserine, respectively. These results indicate that the conserved amino acid residues are crucial for the enzymatic activities of the P4-ATPases. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients

Author

Bessis, Didier, primary, Bursztejn, Anne‐Claire, additional, Morice‐Picard, Fanny, additional, Capri, Yline, additional, Barbarot, Sébastien, additional, Aubert, Hélène, additional, Bodet, Damien, additional, Bourrat, Emmanuelle, additional, Chiaverini, Christine, additional, Poujade, Laura, additional, Willems, Marjolaine, additional, Rouanet, Jacques, additional, Dompmartin‐Blanchère, Anne, additional, Geneviève, David, additional, Gerard, Marion, additional, Ginglinger, Emmanuelle, additional, Hadj‐Rabia, Smaïl, additional, Martin, Ludovic, additional, Mazereeuw‐Hautier, Juliette, additional, Bibas, Nathalie, additional, Molinari, Nicolas, additional, Herman, Fanchon, additional, Phan, Alice, additional, Rod, Julien, additional, Roger, Hugues, additional, Sigaudy, Sabine, additional, Ziegler, Alban, additional, Vial, Yoann, additional, Verloes, Alain, additional, Cavé, Hélène, additional, and Lacombe, Didier, additional

Published
2024
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16. Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders

Author

Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian, Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, and Legros, Christian

Abstract

Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants. Seventeen individuals had developmental delay/intellectual disability (DD/ID), two had borderline DD/ID, and one had borderline DD. Ten individuals had epilepsy with DD/ID, with median age of onset of 10 months, and one had epilepsy with normal development. Molecular diagnosis identified thirteen different pathogenic HCN2 variants, including eleven missense variants affecting highly conserved amino acids, one frameshift variant, and one in-frame deletion. Seven variants were monoallelic of which five occurred de novo, one was not maternally inherited, one was inherited from a father with mild learning disabilities, and one was of unknown inheritance. The remaining six variants were biallelic, with four homozygous and two compound heterozygous variants. Functional studies using two-electrode voltage-clamp recordings in Xenopus laevis oocytes were performed on three monoallelic variants, p.(Arg324His), p.(Ala363Val), and p.(Met374Leu), and three biallelic variants, p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp). The p.(Arg324His) variant induced a strong increase of HCN2 conductance, while p.(Ala363Val) and p.(Met374Leu) displayed dominant negative effects, leading to a partial loss of HCN2 channel function. By confocal imaging, we found that the p.(Leu377His), p.(Pro493Leu) and p.(Gly587Asp) pathogenic variants impaired membrane trafficking, resulting in a complete loss of HCN2 elicited

Published
2024

18. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Author

Vera, Gabriella, Sorlin, Arthur, Delplancq, Geoffroy, Lecoquierre, François, Brasseur-Daudruy, Marie, Petit, Florence, Smol, Thomas, Ziegler, Alban, Bonneau, Dominique, Colin, Estelle, Mercier, Sandra, Cogné, Benjamin, Bézieau, Stéphane, Edery, Patrick, Lesca, Gaetan, Chatron, Nicolas, Sabatier, Isabelle, Duban-Bedu, Bénédicte, Colson, Cindy, Piton, Amélie, Durand, Benjamin, Capri, Yline, Perrin, Laurence, Wiesener, Antje, Zweier, Christiane, Maroofian, Reza, Carroll, Christopher J., Galehdari, Hamid, Mazaheri, Neda, Callewaert, Bert, Giulianno, Fabienne, Zaafrane-Khachnaoui, Khaoula, Buchert-Lo, Rebecca, Haack, Tobias, Magg, Janine, Rieß, Angelika, Blandfort, Maria, Waldmüller, Stephan, Horber, Veronka, Leonardi, Emanuela, Polli, Roberta, Turolla, Licia, Murgia, Alessandra, Frebourg, Thierry, Lebre, Anne Sophie, Nicolas, Gaël, Saugier-Veber, Pascale, and Guerrot, Anne-Marie

Published
2020
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19. Unveiling the crucial neuronal role of the proteasomal ATPase subunit genePSMC5in neurodevelopmental proteasomopathies

Author

Küry, Sébastien, primary, Stanton, Janelle E., additional, van Woerden, Geeske, additional, Hsieh, Tzung-Chien, additional, Rosenfelt, Cory, additional, Pier Scott-Boyer, Marie, additional, Most, Victoria, additional, Wang, Tianyun, additional, Papendorf, Jonas Johannes, additional, de Konink, Charlotte, additional, Deb, Wallid, additional, Vignard, Virginie, additional, Studencka-Turski, Maja, additional, Besnard, Thomas, additional, Hajdukowicz, Anna Marta, additional, Thiel, Franziska, additional, Moller, Sophie, additional, Florenceau, Laetitia, additional, Cuinat, Silvestre, additional, Marsac, Sylvain, additional, Wentzensen, Ingrid, additional, Tuttle, Annabelle, additional, Forster, Cara, additional, Striesow, Johanna, additional, Golnik, Richard, additional, Ortiz, Damara, additional, Jenkins, Laura, additional, Rosenfeld, Jill A., additional, Ziegler, Alban, additional, Houdayer, Clara, additional, Bonneau, Dominique, additional, Torti, Erin, additional, Begtrup, Amber, additional, Monaghan, Kristin G., additional, Mullegama, Sureni V., additional, Volker-Touw, C.M.L. (Nienke), additional, van Gassen, Koen L.I., additional, Oegema, Renske, additional, de Pagter, Mirjam, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Ivanovski, Ivan, additional, McDonald, Kimberly, additional, Boothe, Emily, additional, Dauber, Andrew, additional, Baker, Janice, additional, Fabie, Noelle Andrea V., additional, Bernier, Raphael A., additional, Turner, Tychele N., additional, Srivastava, Siddharth, additional, Dies, Kira A., additional, Swanson, Lindsay, additional, Costin, Carrie, additional, Jobling, Rebekah K., additional, Pappas, John, additional, Rabin, Rachel, additional, Niyazov, Dmitriy, additional, Tsai, Anne Chun-Hui, additional, Kovak, Karen, additional, Beck, David B., additional, Malicdan, May Christine V, additional, Adams, David R, additional, Wolfe, Lynne, additional, Ganetzky, Rebecca D., additional, Muraresku, Colleen, additional, Babikyan, Davit, additional, Sedlacek, Zdenek, additional, Hancarova, Miroslava, additional, Timberlake, Andrew T., additional, Al Saif, Hind, additional, Schmidt, Berkley, additional, King, Kayla, additional, Hajianpour, MJ, additional, Costain, Gregory, additional, Prendergast, D'Arcy, additional, Li, Chumei, additional, Genevieve, David, additional, Vitobello, Antonio, additional, Sorlin, Arthur, additional, Philippe, Christophe, additional, Harel, Tamar, additional, Toker, Ori, additional, Sabir, Ataf, additional, Lim, Derek, additional, Hamilton, Mark, additional, Bryson, Lisa, additional, Cleary, Elaine, additional, Weber, Sacha, additional, Hoffman, Trevor L., additional, Cueto-Gonzalez, Anna Maria, additional, Tizzano, Eduardo Fidel, additional, Gomez-Andres, David, additional, Codina-Sola, Marta, additional, Ververi, Athina, additional, Pavlidou, Efterpi, additional, Lambropoulos, Alexandros, additional, Garganis, Kyriakos, additional, Rio, Marlene, additional, Levy, Jonathan, additional, Jurgensmeyer, Sarah, additional, McRae, Anne M., additional, Lessard, Mathieu K., additional, DAgostino, Maria Daniela, additional, De Bie, Isabelle, additional, Wegler, Meret, additional, Abou Jamra, Rami, additional, Kamphausen, Susanne B., additional, Bothe, Viktoria, additional, Busch, Larissa M., additional, Volker, Uwe, additional, Hammer, Elke, additional, Wende, Kristian, additional, Cogne, Benjamin, additional, Isidor, Bertrand, additional, Meiler, Jens, additional, Bosc-Rosati, Amelie, additional, Marcoux, Julien, additional, Bousquet, Marie-Pierre, additional, Poschmann, Jeremie, additional, Laumonnier, Frederic, additional, Hildebrand, Peter W., additional, Eichler, Evan E., additional, McWalter, Kirsty, additional, Krawitz, Peter M., additional, Droit, Arnaud, additional, Elgersma, Ype, additional, Grabrucker, Andreas M., additional, Bolduc, Francois, additional, Bézieau, Stéphane, additional, Ebstein, Frédéric, additional, and Krüger, Elke, additional

Published
2024
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20. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Author

Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., and Lachlan, Katherine

Published
2020
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21. Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction.

Author

Wittrien, Theresa, Ziegler, Alban, Rühle, Anne, Stomberg, Svenja, Meyer, Ruben, Bonneau, Dominique, Rodien, Patrice, Prunier-Mirebeau, Delphine, Coutant, Régis, and Behrends, Sönke

Subjects
*PRECOCIOUS puberty, *GUANYLATE cyclase, *PROTEIN expression
Abstract

Purpose The purpose of this study was to characterize the phenotype associated with a de novo gain-of-function variant in the GUCY1A2 gene. Methods An individual carrying the de novo heterozygous variant c.1458G>T p.(E486D) in GUCY1A2 was identified by exome sequencing. The effect of the corresponding enzyme variant α2E486D/β1 was evaluated using concentration-response measurements with wild-type enzyme and the variant in cytosolic fractions of HEK293 cells, UV-vis absorbance spectra of the corresponding purified enzymes, and examination of overexpressed fluorescent protein-tagged constructs by confocal laser scanning microscopy. Results The patient presented with precocious peripheral puberty resembling the autonomous ovarian puberty seen in McCune-Albright syndrome. Additionally, the patient displayed severe intellectual disability. In vitro activity assays revealed an increased nitric oxide affinity for the mutant enzyme. The response to carbon monoxide was unchanged, while thermostability was decreased compared to wild type. Heme content, susceptibility to oxidation, and subcellular localization upon overexpression were unchanged. Conclusion Our data define a syndromic autonomous ovarian puberty likely due to the activating allele p.(E486D) in GUCY1A2 leading to an increase in cGMP. The overlap with the ovarian symptoms of McCune-Albright syndrome suggests an impact of this cGMP increase on the cAMP pathway in the ovary. Additional cases will be needed to ensure a causal link. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Caregiver‐reported dental manifestations in individuals with genetic neurodevelopmental disorders.

Author

Ming, Neil R., Noble, Deanna, Chussid, Steven, Ziegler, Alban, and Chung, Wendy K.

Subjects
GENETIC disorder diagnosis, CAREGIVERS, CONFIDENCE intervals, CROSS-sectional method, ACQUISITION of data, INDIVIDUALIZED medicine, COMPARATIVE studies, CHILD psychopathology, DESCRIPTIVE statistics, CHI-squared test, DENTITION, ORAL manifestations of general diseases, PERMANENT dentition
Abstract

Background: Children with neurodevelopmental disorders (NDDs) often have poor oral health and dental abnormalities. An increasing number of genes have been associated with neurodevelopmental conditions affecting the oral cavity, but the specific dental features associated with many genes remain unknown. Aim: To report the types and frequencies of dental manifestations in children with neurodevelopmental conditions of known genetic cause. Design: A 30‐question survey assesing ectodermal and dental features was administered through Simons Searchlight, with which formed a recontactable cohort of individuals with genetic NDDs often associated with autism spectrum disorder (ASD). Results: Data were collected from a largely paediatric population with 620 affected individuals across 39 genetic conditions and 145 unaffected siblings without NDDs for comparison. Drooling, difficulty accessing dental care, late primary teeth eruption, abnormal primary and permanent teeth formation, misshapen nails, and hair loss were more frequent in individuals with NDDs. Additionally, we evidenced an association between three new pathogenic gene variant/oral manifestation pairs: CSNK2A1/unusual primary teeth, DYRK1A/late primary teeth eruption, and PPP2R5D/sialorrhea. Conclusion: Our results demonstrate that genetic NDDs caused by mutations in CSNK2A1, DYRK1A, and PP2R5D are associated with unique dental manifestations, and knowledge of these features can be helpful to personalize dental care. [ABSTRACT FROM AUTHOR]

Published
2024
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24. MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation

Author

Kauskot, Alexandre, primary, Mallebranche, Coralie, additional, Bruneel, Arnaud, additional, Fenaille, François, additional, Solarz, Jean, additional, Viellard, Toscane, additional, Feng, Miao, additional, Repérant, Christelle, additional, Bordet, Jean-Claude, additional, Cholet, Sophie, additional, Denis, Cécile V., additional, McCluskey, Geneviève, additional, Latour, Sylvain, additional, Martin, Emmanuel, additional, Pellier, Isabelle, additional, Lasne, Dominique, additional, Borgel, Delphine, additional, Kracker, Sven, additional, Ziegler, Alban, additional, Tuffigo, Marie, additional, Fournier, Benjamin, additional, Miot, Charline, additional, and Adam, Frédéric, additional

Published
2023
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25. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

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

Published
2023
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26. 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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30. Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy

Author

Kárteszi, Judit, primary, Ziegler, Alban, additional, Tihanyi, Mariann, additional, Elmont, Beatrix, additional, Zhang, Yuebo, additional, Patócs, Barbara, additional, Molnár, Mária Judit, additional, Méhes, Gábor, additional, Wells, Kirsty, additional, Jakus, Rita, additional, Bessenyei, Beáta, additional, Ranatunga, Wasantha, additional, and Morava, Éva, additional

Published
2023
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31. Loss-of-function variants inCUL3cause a syndromic neurodevelopmental disorder

Author

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

Published
2023
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32. O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city

Author

Chung, Wendy, Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise, Suchy, Sharon, Bergtrup, Amber, Langley, Katherine, Amendola, Laura, Boyd, Brenna, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian, Coffey, Alison, Devaney, Joseph, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsey, Gyimah, Awura, Hernan, Rebecca, Hofherr, Sean, Hruska, Kathleen, Hu, Zhanzhi, Jeanne, Mederic, Jin, Guanjun, Johnson, Aaron, Kavus, Haluk, Leibel, Rudolph, McWalter, Kirsty, Monaghan, Kristin, Soler, Nicole Pimentel, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shapiro, Natasha, Sicko, Robert, Storm, Samuel, Torene, Rebecca, Williams, Olatundun, Wynn, Julia, Taft, Ryan, Kruszka, Paul, and Caggana, Michele

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

Author

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

Subjects
Article
Abstract

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

Published
2023

35. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Author

Ziegler, Alban, Steindl, Katharina, Hanner, Ashleigh S, Kumar Kar, Rajesh, Prouteau, Clément, Boland, Anne, Deleuze, Jean Francois, Coubes, Christine, Bézieau, Stéphane, Küry, Sébastien, Maystadt, Isabelle, Le Mao, Morgane, Lenaers, Guy, Navet, Benjamin, Faivre, Laurence, Tran Mau-Them, Frédéric, Zanoni, Paolo, Chung, Wendy K, Rauch, Anita, Bonneau, Dominique, Park, Myung Hee, University of Zurich, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universität Zürich [Zürich] = University of Zurich (UZH), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Institut de Génomique d'Evry (IG), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de Génétique Humaine [Charleroi, Belgium] (Institut de Pathologie et de Génétique), Institut de Pathologie et de Génétique, Charleroi, Immunomodulation of the Tumor Microenvironment and Immunotherapy of Thoracic Cancers (CRCI2NA / Eq 1), Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers (CRCI2NA ), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), 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), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), University hospital of Zurich [Zurich], Columbia University Medical Center (CUMC), and Columbia University [New York]

Subjects
DHPS, 10039 Institute of Medical Genetics, Lysine, [SDV]Life Sciences [q-bio], deoxyhypusine hydroxylase, DOHH, Gene Expression, translation, 610 Medicine & health, neurodevelopmental disorder, hypusine, Mixed Function Oxygenases, post, translational modification, Neurodevelopmental Disorders, Report, EIF5A1, Genetics, Humans, 570 Life sciences, biology, eIF5A, microcephaly, Alleles, Genetics (clinical)
Abstract

Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [N(ε)-(4-amino-2-hydroxybutyl)lysine] in the eukaryotic initiation factor 5A (eIF5A). Hypusine is formed exclusively in eIF5A by two sequential enzymatic steps catalyzed by deoxyhypusine synthase (DHPS) and deoxyhypusine hydroxylase (DOHH). Hypusinated eIF5A is essential for translation and cell proliferation in eukaryotes, and all three genes encoding eIF5A, DHPS, and DOHH are highly conserved throughout eukaryotes. Pathogenic variants affecting either DHPS or EIF5A have been previously associated with neurodevelopmental disorders. Using trio exome sequencing, we identified rare bi-allelic pathogenic missense and truncating DOHH variants segregating with disease in five affected individuals from four unrelated families. The DOHH variants are associated with a neurodevelopmental phenotype that is similar to phenotypes caused by DHPS or EIF5A variants and includes global developmental delay, intellectual disability, facial dysmorphism, and microcephaly. A two-dimensional gel analyses revealed the accumulation of deoxyhypusine-containing eIF5A [eIF5A(Dhp)] and a reduction in the hypusinated eIF5A in fibroblasts derived from affected individuals, providing biochemical evidence for deficiency of DOHH activity in cells carrying the bi-allelic DOHH variants. Our data suggest that rare bi-allelic variants in DOHH result in reduced enzyme activity, limit the hypusination of eIF5A, and thereby lead to a neurodevelopmental disorder.

Published
2022

37. 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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38. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Author

Tran Mau-Them, Frédéric, primary, Delanne, Julian, additional, Denommé-Pichon, Anne-Sophie, additional, Safraou, Hana, additional, Bruel, Ange-Line, additional, Vitobello, Antonio, additional, Garde, Aurore, additional, Nambot, Sophie, additional, Bourgon, Nicolas, additional, Racine, Caroline, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Marle, Nathalie, additional, Rousseau, Thierry, additional, Sagot, Paul, additional, Simon, Emmanuel, additional, Vincent-Delorme, Catherine, additional, Boute, Odile, additional, Colson, Cindy, additional, Petit, Florence, additional, Legendre, Marine, additional, Naudion, Sophie, additional, Rooryck, Caroline, additional, Prouteau, Clément, additional, Colin, Estelle, additional, Guichet, Agnès, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, Morel, Godelieve, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoé, additional, Quelin, Chloé, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Vera, Gabriella, additional, Goldenberg, Alice, additional, Guerrot, Anne-Marie, additional, Brehin, Anne-Claire, additional, Putoux, Audrey, additional, Attia, Jocelyne, additional, Abel, Carine, additional, Blanchet, Patricia, additional, Wells, Constance F., additional, Deiller, Caroline, additional, Nizon, Mathilde, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Isidor, Bertrand, additional, Amiel, Jeanne, additional, Dard, Rodolphe, additional, Godin, Manon, additional, Gruchy, Nicolas, additional, Jeanne, Médéric, additional, Schaeffer, Elise, additional, Maillard, Pierre-Yves, additional, Payet, Frédérique, additional, Jacquemont, Marie-Line, additional, Francannet, Christine, additional, Sigaudy, Sabine, additional, Bergot, Marine, additional, Tisserant, Emilie, additional, Ascencio, Marie-Laure, additional, Binquet, Christine, additional, Duffourd, Yannis, additional, Philippe, Christophe, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional

Published
2023
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39. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

Author

Levaillant, Lucie, primary, Bouhours-Nouet, Natacha, additional, Illouz, Frédéric, additional, Amsellem Jager, Jessica, additional, Bachelot, Anne, additional, Barat, Pascal, additional, Baron, Sabine, additional, Bensignor, Candace, additional, Brac De La Perriere, Aude, additional, Braik Djellas, Yasmine, additional, Caillot, Morgane, additional, Caldagues, Emmanuelle, additional, Campas, Marie-Neige, additional, Caquard, Marylène, additional, Cartault, Audrey, additional, Cheignon, Julie, additional, Decrequy, Anne, additional, Delemer, Brigitte, additional, Dieckmann, Katherine, additional, Donzeau, Aurélie, additional, Doye, Emilie, additional, Fradin, Mélanie, additional, Gaudillière, Mélanie, additional, Gatelais, Frédérique, additional, Gorce, Magali, additional, Hazart, Isabelle, additional, Houcinat, Nada, additional, Houdon, Laure, additional, Ister-Salome, Marielle, additional, Jozwiak, Lucie, additional, Jeannoel, Patrick, additional, Labarthe, Francois, additional, Lacombe, Didier, additional, Lambert, Anne-Sophie, additional, Lefevre, Christine, additional, Leheup, Bruno, additional, Leroy, Clara, additional, Maisonneuve, Benedicte, additional, Marchand, Isis, additional, Marquant, Emeline, additional, Muszlak, Matthias, additional, Pantalone, Letitia, additional, Pochelu, Sandra, additional, Quelin, Chloé, additional, Radet, Catherine, additional, Renoult-Pierre, Peggy, additional, Reynaud, Rachel, additional, Rouleau, Stéphanie, additional, Teinturier, Cécile, additional, Thevenon, Julien, additional, Turlotte, Caroline, additional, Valle, Aline, additional, Vierge, Melody, additional, Villanueva, Carine, additional, Ziegler, Alban, additional, Dieu, Xavier, additional, Bouzamondo, Nathalie, additional, Rodien, Patrice, additional, Prunier-Mirebeau, Delphine, additional, and Coutant, Régis, additional

Published
2023
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40. 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

41. Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure

Author

Huang, Liping, primary, Yang, Zhongyue, additional, Kirschke, Catherine P, additional, Prouteau, Clément, additional, Copin, Marie-Christine, additional, Bonneau, Dominique, additional, Pellier, Isabelle, additional, Coutant, Régis, additional, Miot, Charline, additional, and Ziegler, Alban, additional

Published
2023
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42. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Author

Sobering, Andrew K., primary, Bryant, Laura M., additional, Li, Dong, additional, McGaughran, Julie, additional, Maystadt, Isabelle, additional, Moortgat, Stephanie, additional, Graham, John M., additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Cuperus, Roos, additional, Vogt, Julie, additional, Morton, Jenny, additional, Brasch-Andersen, Charlotte, additional, Steenhof, Maria, additional, Hansen, Lars Kjærsgaard, additional, Adler, Élodie, additional, Lyonnet, Stanislas, additional, Pingault, Veronique, additional, Sandrine, Marlin, additional, Ziegler, Alban, additional, Donald, Tyhiesia, additional, Nelson, Beverly, additional, Holt, Brandon, additional, Petryna, Oleksandra, additional, Firth, Helen, additional, McWalter, Kirsty, additional, Zyskind, Jacob, additional, Telegrafi, Aida, additional, Juusola, Jane, additional, Person, Richard, additional, Bamshad, Michael J., additional, Earl, Dawn, additional, Chun-Hui Tsai, Anne, additional, Yearwood, Katherine R., additional, Marco, Elysa, additional, Nowak, Catherine, additional, Douglas, Jessica, additional, Hakonarson, Hakon, additional, and Bhoj, Elizabeth J., additional

Published
2023
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43. Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Author

Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A. Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., and Lachlan, Katherine

Published
2020
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44. SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Author

Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M. Reis, Elena V. Semina, Katherine Lachlan, Kate Chandler, Thomas Wright, Jill Clayton-Smith, Franziska Phan Hug, Nelly Pitteloud, Lucia Bartoloni, Sabine Hoffjan, Soo-Mi Park, Ajay Thankamony, Melissa Lees, Emma Wakeling, Swati Naik, Britta Hanker, Katta M. Girisha, Emanuele Agolini, Zampino Giuseppe, Ziegler Alban, Marine Tessarech, Boris Keren, Alexandra Afenjar, Christiane Zweier, Andre Reis, Thomas Smol, Yoshinori Tsurusaki, Okamoto Nobuhiko, Futoshi Sekiguchi, Naomi Tsuchida, Naomichi Matsumoto, Ikuyo Kou, Yoshiro Yonezawa, Shiro Ikegawa, Bert Callewaert, Megan Freeth, Lotte Kleinendorst, Alan Donaldson, Marielle Alders, Anne De Paepe, Bekim Sadikovic, Alisdair McNeill, Deborah Nickerson, Michael Bamshad, Suzanne Leal, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, null FionaMaleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, null TahrimaRahim, Augusto Rendon, null TimRogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Human Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, and ACS - Pulmonary hypertension & thrombosis

Subjects
EXPRESSION, MUTATIONS, FEATURES, Hypogonadism, disorder, DNA Methylation, Genome sequencing, Methylation, Article, SOXC Transcription Factors, Klinefelter Syndrome, Phenotype, Neurodevelopmental disorder, Neurodevelopmental Disorders, Exome Sequencing, SOX11, Medicine and Health Sciences, Neurodevelopmental, Humans, Exome, Genetics (clinical)
Abstract

Purpose: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. Methods: Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation was assessed using Infinium MethylationEPIC array. The expression pattern of SOX11 in developing human brain was defined using RNAscope. Results: We reported 38 new patients with SOX11 variants. Idiopathic hypogonadotropic hypogonadism was confirmed as a feature of SOX11 syndrome. A distinctive pattern of blood DNA methylation was identified in SOX11 syndrome, separating SOX11 syndrome from other BAFopathies. Conclusion: SOX11 syndrome is a distinct clinical entity with characteristic clinical features and episignature differentiating it from BAFopathies. (C) 2022 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.

Published
2022

46. Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Author

Sobering, Andrew K., primary, Bryant, Laura M., additional, Li, Dong, additional, McGaughran, Julie, additional, Maystadt, Isabelle, additional, Moortgat, Stephanie, additional, Graham, John M., additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia, additional, Cuperus, Roos, additional, Vogt, Julie, additional, Morton, Jenny, additional, Brasch-Andersen, Charlotte, additional, Steenhof, Maria, additional, Hansen, Lars Kjærsgaard, additional, Adler, Élodie, additional, Lyonnet, Stanislas, additional, Pingault, Veronique, additional, Sandrine, Marlin, additional, Ziegler, Alban, additional, Donald, Tyhiesia, additional, Nelson, Beverly, additional, Holt, Brandon, additional, Petryna, Oleksandra, additional, Firth, Helen, additional, McWalter, Kirsty, additional, Zyskind, Jacob, additional, Telegrafi, Aida, additional, Juusola, Jane, additional, Person, Richard, additional, Bamshad, Michael J., additional, Earl, Dawn, additional, Tsai, Anne Chun-Hui, additional, Yearwood, Katherine R., additional, Marco, Elysa, additional, Nowak, Catherine, additional, Douglas, Jessica, additional, Hakonarson, Hakon, additional, and Bhoj, Elizabeth J., additional

Published
2022
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47. Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder

Author

Meuwissen, Marije, primary, Verstraeten, Aline, additional, Ranza, Emmanuelle, additional, Iwaszkiewicz, Justyna, additional, Bastiaansen, Maaike, additional, Mateiu, Ligia, additional, Nemegeer, Merlijn, additional, Meester, Josephina A.N., additional, Afenjar, Alexandra, additional, Amaral, Michelle, additional, Ballhausen, Diana, additional, Barnett, Sarah, additional, Barth, Magalie, additional, Asselbergh, Bob, additional, Spaas, Katrien, additional, Heeman, Bavo, additional, Bassetti, Jennifer, additional, Blackburn, Patrick, additional, Schaer, Marie, additional, Blanc, Xavier, additional, Zoete, Vincent, additional, Casas, Kari, additional, Courtin, Thomas, additional, Doummar, Diane, additional, Guerry, Frédéric, additional, Keren, Boris, additional, Pappas, John, additional, Rabin, Rachel, additional, Begtrup, Amber, additional, Shinawi, Marwan, additional, Vulto-van Silfhout, Anneke T., additional, Kleefstra, Tjitske, additional, Wagner, Matias, additional, Ziegler, Alban, additional, Schaefer, Elise, additional, Gerard, Benedicte, additional, De Bie, Charlotte I., additional, Holwerda, Sjoerd J.B., additional, Abbot, Mary Alice, additional, Antonarakis, Stylianos E., additional, and Loeys, Bart, additional

Published
2022
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48. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie, Claus, Laura, Stallworth, Jennifer, van Jaarsveld, Richard, Turner, Joshu, Hawks, Alexandra, May, Melanie, Flanagan-Steet, Heather, Louie, Raymond, Silver, Josh, Lerner-Ellise, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Larsen, Martin, Michael Hertz, Jens, Lilien, Marc, Olinger, Eric, Sayer, John, Obeidová, Lena, Seeman, Tomas, Senum, Sarah, Hanna, Christian, Rogers, Curtis, Duran, Karen, Peters, Edith, Harris, Peter, Mason, Jennifer, van Haaften, Gijs, M. Van Eerde, Albertien, Steet, Richard, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie, Claus, Laura, Stallworth, Jennifer, van Jaarsveld, Richard, Turner, Joshu, Hawks, Alexandra, May, Melanie, Flanagan-Steet, Heather, Louie, Raymond, Silver, Josh, Lerner-Ellise, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Larsen, Martin, Michael Hertz, Jens, Lilien, Marc, Olinger, Eric, Sayer, John, Obeidová, Lena, Seeman, Tomas, Senum, Sarah, Hanna, Christian, Rogers, Curtis, Duran, Karen, Peters, Edith, Harris, Peter, Mason, Jennifer, van Haaften, Gijs, M. Van Eerde, Albertien, and Steet, Richard

Published
2022

50. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy

Author

Claus, Laura, primary, Stallworth, Jennifer, additional, van Jaarsveld, Richard, additional, Turner, Joshu, additional, Hawks, Alexandra, additional, May, Melanie, additional, Flanagan-Steet, Heather, additional, Louie, Raymond, additional, Silver, Josh, additional, Lerner-Ellise, Jordan, additional, Morel, Chantal, additional, Mighton, Chloe, additional, Ziegler, Alban, additional, Barakat, Stefan, additional, Dahan, Karin, additional, Demoulin, Nathalie, additional, Jean Goffin, Eric, additional, Larsen, Martin, additional, Michael Hertz, Jens, additional, Lilien, Marc, additional, Olinger, Eric, additional, Sayer, John, additional, Obeidová, Lena, additional, Seeman, Tomas, additional, Senum, Sarah, additional, Hanna, Christian, additional, Rogers, Curtis, additional, Duran, Karen, additional, Peters, Edith, additional, Harris, Peter, additional, Mason, Jennifer, additional, van Haaften, Gijs, additional, M. Van Eerde, Albertien, additional, and Steet, Richard, additional

Published
2022
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