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1. List of Contributors

Author

Agrawal, Pankaj B., primary, Akhtar, Yasmin, additional, Alallah, Jubara, additional, Alhassen, Ziad, additional, Altit, Gabriel, additional, AlZubaidi, Abbas, additional, Amlani, Lahin M., additional, Antelo, Martin, additional, Athalye-Jape, Gayatri, additional, Badarch, Jargalsaikhan, additional, Baer, Gerri, additional, Bagga, Nitasha, additional, Bahr, Timothy M., additional, Bar-Cohen, Yaniv, additional, M. Barr, Stephanie, additional, Bauer, Andrew J., additional, Bearer, Cynthia F., additional, Beckman, Ross M., additional, Beltempo, Marc, additional, Bembea, Melania M., additional, Berlin, Sheila, additional, Berry, Shandeigh N., additional, Bhandari, Vineet, additional, Bhatia, Shaifali, additional, Bhombal, Shazia, additional, Bigelow, Elaine O., additional, Blevins, Carley, additional, Boppana, Suresh, additional, Boss, Renee, additional, Brooks, Sandra, additional, Buonocore, Giuseppe, additional, Burnsed, Jennifer, additional, Calabria, Andrew C., additional, Carrasco, Melisa, additional, Carter, Brian S., additional, Chandrasekharan, Praveen, additional, Chavez-Valdez, Raul, additional, Choleva, Lauryn, additional, Christensen, Robert D., additional, Chung, Wendy K., additional, Coggins, Sarah A., additional, Cooke, David W., additional, Cummings, Laura, additional, Currie, Erin R., additional, Davidson, Joanne O., additional, Davis, Jonathan M., additional, Day-Richardson, Colby L., additional, De Leon, Diva D., additional, Dedhia, Kavita, additional, Dendi, Alvaro, additional, Deshpande, Anita, additional, Dionne, Janis M., additional, Donda, Keyur, additional, Donohue, Lee, additional, Doyle, Jefferson J., additional, Dulkerian, Susan J., additional, Dumpa, Vikramaditya, additional, Duncan, Andrea F., additional, Dunham, Alexandra M., additional, Ecret, DiAnn, additional, Ellis, Kelstan, additional, El-Metwally, Dina, additional, Etchill, Eric W., additional, Ethawi, Yahya, additional, Everett, Allen D., additional, Fabres, Jorge, additional, Felling, Ryan J., additional, Fenton, Tanis R., additional, Flannery, Dustin D., additional, Flynn, Joseph T., additional, Fredenburg, Michaelene, additional, Fuqua, John, additional, Garcia, Alejandro V., additional, Garzon, Steven, additional, Gauda, Estelle B., additional, Thompson, Marisa Gilstrop, additional, Goldenberg, Barton, additional, Salazar, Andres J. Gonzalez, additional, Goodwin, Julie E., additional, Goudy, Steven L., additional, Graham, Ernest, additional, Grauerholz, Kathryn, additional, Groves, Mari L., additional, Guillot, Mireille, additional, Gunn, Alistair J., additional, Gupta, Arjun, additional, Hackam, David J., additional, Hidalgo, Joaquin, additional, Honcharuk, Erin, additional, Htun, Zeyar, additional, Hudak, Mark L., additional, Driscoll, Colleen A. Hughes, additional, Huisman, Thierry A.G.M., additional, Jabroun, Mireille, additional, Jackson, Eric M., additional, Jain, Naveen, additional, Jain, Rajesh, additional, Jelin, Angie, additional, Jelin, Eric, additional, Juul, Sandra E., additional, Kaufman, David A., additional, BMBS, Alison Kent,, additional, Khuder, Sundos, additional, Kovler, Mark L., additional, Kraus, Courtney L., additional, Krishnamurthy, Ganga, additional, Kukora, Stephanie K., additional, Kumar, Ashok, additional, Kunisaki, Shaun M., additional, Kuper-Sassé, Margaret, additional, Kwiatkowski, David M., additional, Lakshminrusimha, Satyan, additional, Laventhal, Naomi T., additional, Lawrence, Shelley M., additional, Lee-Winn, Angela E., additional, Leuthner, Steven, additional, Lewallen, Laura, additional, Lewis, Tamorah R., additional, Liken, Hillary B., additional, Liubšys, Arūnas, additional, Lui, Kei, additional, Maheshwari, Akhil, additional, Maitre, Nathalie L., additional, Makker, Kartikeya, additional, Mammen, Cherry, additional, J. Martin, Richard, additional, Mattos Castellano, María, additional, Maxwell, Jessie R., additional, McFarlane, Renske, additional, McLemore, Gabrielle, additional, McNelis, Kera M., additional, McPherson, Christopher, additional, Mietzsch, Ulrike, additional, Milante, Rachel R., additional, Miller, Jena L., additional, Mukhopadhyay, Sagori, additional, Mynak, Mimi L., additional, Nasr, Isam W., additional, Natarajan, Niranjana, additional, Navaneethan, Hema, additional, Nees, Shannon N., additional, Nguyen, Mai, additional, Noori, Shahab, additional, Odackal, Namrita J., additional, Ohls, Robin K., additional, Ostrander, Betsy E., additional, Pammi, Mohan, additional, Parimi, Prabhu S., additional, Park, Albert, additional, Patil, Monika S., additional, Pereira, Elaine M., additional, Premkumar, Muralidhar H., additional, Price-Douglas, Webra, additional, Puopolo, Karen M., additional, Rabe, Heike, additional, M. Rahman, Mohammad, additional, Reber, Kristina, additional, Kallem, Venkat Reddy, additional, Repka, Michael X., additional, Rhee, Daniel S., additional, Ringle, Megan L., additional, Rohrer, Allison, additional, Romero, Christopher J., additional, Ryan, Marisa A., additional, Sampah, Maame E.S., additional, Sanchez-Valle, Amarilis, additional, Sant’Anna, Guilherme M., additional, Saugstad, Ola D., additional, RobertH., Anne and, additional, Schacht, John P., additional, Schelonka, Robert L., additional, Schofield, Erin E., additional, Selewski, David T., additional, Shah, Prakesh S., additional, Shih, Jessica G., additional, Sibinga, Erica M.S., additional, Sigal, Winnie, additional, Sims, Brian, additional, Singh, Rachana, additional, Singh, Srijan, additional, Snyder, Donna, additional, Sobrero, Helena, additional, Sponseller, Paul D., additional, Stafstrom, Carl E., additional, Steflik, Heidi J., additional, Sun, Lisa R., additional, Sundararajan, Sripriya, additional, Taylor, Sarah N., additional, Terrin, Norma, additional, Thacker, Prolima G., additional, Thébaud, Bernard, additional, Toms, Rune, additional, Torres, Benjamin A., additional, Tunkel, David E., additional, Umandap, Christine H., additional, Chaves, Diana Vargas, additional, Vento, Maximo, additional, Walsh, Jonathan, additional, Walter, Jolan, additional, Weaver, Meaghann S., additional, Weimer, Kristin, additional, Weller, Jennine, additional, Winter, Lindy W., additional, Wu, Tai-Wei, additional, and Yau, Mabel, additional

Published
2024
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2. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Author

Ma, Mengqi, Ganapathi, Mythily, Zheng, Yiming, Tan, Kai-Li, Kanca, Oguz, Bove, Kevin E., Quintanilla, Norma, Sag, Sebnem O., Temel, Sehime G., LeDuc, Charles A., McPartland, Amanda J., Pereira, Elaine M., Shen, Yufeng, Hagen, Jacob, Thomas, Christie P., Nguyen Galván, Nhu Thao, Pan, Xueyang, Lu, Shenzhao, Rosenfeld, Jill A., Calame, Daniel G., Wangler, Michael F., Lupski, James R., Pehlivan, Davut, Hertel, Paula M., Chung, Wendy K., and Bellen, Hugo J.

Published
2024
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3. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Author

Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, and Vasileiou, Georgia

Published
2023
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4. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Author

Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M., Josiah, Sunday S., Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J., Hao, Le T., Li, Hong, Stevenson, Roger E., Louie, Raymond J., Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F. Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A., Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M., Barr, Eileen E., Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G., Monaghan, Kristin G., Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K., Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M., Berger, Sara M., Milla, Sarah S., Jaykumar, Ankita B., Cobb, Melanie H., Panchagnula, Shreyas, Duy, Phan Q., Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill. A., Friez, Michael J., Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E., Schwartz, Charles E., Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T., and Isidor, Bertrand

Published
2022
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6. Developmental epileptic encephalopathy in DLG4-related synaptopathy

Author

Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, and Rubboli, Guido

Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants. Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requi

Published
2024

8. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Author

Kassabian, Benedetta, primary, Levy, Amanda M., additional, Gardella, Elena, additional, Aledo‐Serrano, Angel, additional, Ananth, Amitha L., additional, Brea‐Fernández, Alejandro J., additional, Caumes, Roseline, additional, Chatron, Nicolas, additional, Dainelli, Alice, additional, De Wachter, Matthias, additional, Denommé‐Pichon, Anne‐Sophie, additional, Dye, Thomas J., additional, Fazzi, Elisa, additional, Felt, Roxanne, additional, Fernández‐Jaén, Alberto, additional, Fernández‐Prieto, Montserrat, additional, Gantz, Emily, additional, Gasperowicz, Piotr, additional, Gil‐Nagel, Antonio, additional, Gómez‐Andrés, David, additional, Greiner, Hansel M., additional, Guerrini, Renzo, additional, Haanpää, Maria K., additional, Helin, Minttu, additional, Hoyer, Juliane, additional, Hurst, Anna C. E., additional, Kallish, Staci, additional, Karkare, Shefali N., additional, Khan, Amjad, additional, Kleinendorst, Lotte, additional, Koch, Johannes, additional, Kothare, Sanjeev V., additional, Koudijs, Suzanna V., additional, Lagae, Lieven, additional, Lakeman, Phillis, additional, Leppig, Kathleen A., additional, Lesca, Gaetan, additional, Lopergolo, Diego, additional, Lusk, Laina, additional, Mackenzie, Alex, additional, Mei, Davide, additional, Møller, Rikke S., additional, Pereira, Elaine M., additional, Platzer, Konrad, additional, Quelin, Chloe, additional, Revah‐Politi, Anya, additional, Rheims, Sylvain, additional, Rodríguez‐Palmero, Agustí, additional, Rossi, Andrea, additional, Santorelli, Filippo, additional, Seinfeld, Syndi, additional, Sell, Erick, additional, Stephenson, Donna, additional, Szczaluba, Krzysztof, additional, Trinka, Eugen, additional, Umair, Muhammad, additional, Van Esch, Hilde, additional, van Haelst, Mieke M., additional, Veenma, Danielle C. M., additional, Weber, Sacha, additional, Weckhuysen, Sarah, additional, Zacher, Pia, additional, Tümer, Zeynep, additional, and Rubboli, Guido, additional

Published
2023
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9. Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.

Author

Freiman, Andrew, Rekab, Aisha, Bergner, Amanda L., Pereira, Elaine M., Lin, Yuhuan, and Ahimaz, Priyanka

Abstract

The increased utilization of clinical genomic sequencing in the past decade has ushered in the era of genomic medicine, requiring genetics providers to acquire new skills and adapt their practices. The change in workplace responsibilities of clinical/medical geneticists (CMGs) and genetic counselors (GCs) in North America, due to the evolution of genetic testing, has not been studied. We surveyed CMGs (n = 80) and GCs (n = 127) with experience in general/pediatric genetics to describe their current practice of clinical tasks and the change in regularity of performing these tasks over the past 5–10 years. Currently, complementarity of responsibilities between CMGs and GCs clearly exists but providers who have been in the field for longer have noted role changes. Trends indicate that fewer experienced CMGs perform physical exams and select genetic tests than before and fewer experienced GCs complete requisitions and write result letters. The frequency of CMGs and GCs who investigate genetic test results, however, has increased. This study provides insight into the changing landscape of clinical genetics practice. Our findings suggest that the roles and responsibilities of CMGs and GCs have shifted in the past decade. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

Author

Bosch, Elisabeth, primary, Popp, Bernt, additional, Güse, Esther, additional, Skinner, Cindy, additional, van der Sluijs, Pleuntje J., additional, Maystadt, Isabelle, additional, Pinto, Anna Maria, additional, Renieri, Alessandra, additional, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Marcelis, Carlo, additional, Baysal, Özlem, additional, Hartwich, Dewi, additional, Holthöfer, Laura, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Wieczorek, Dagmar, additional, Capra, Valeria, additional, Scala, Marcello, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Jamra, Rami Abou, additional, Platzer, Konrad, additional, Carter, Lauren B., additional, Kuismin, Outi, additional, van Haeringen, Arie, additional, Maroofian, Reza, additional, Valenzuela, Irene, additional, Cuscò, Ivon, additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, Mefford, Heather C., additional, Pereira, Elaine M., additional, Close, Charlotte, additional, Anyane-Yeboa, Kwame, additional, Wagner, Mallory, additional, Hannibal, Mark C., additional, Zacher, Pia, additional, Thiffault, Isabelle, additional, Beunders, Gea, additional, Umair, Muhammad, additional, Bhola, Priya T., additional, McGinnis, Erin, additional, Millichap, John, additional, van de Kamp, Jiddeke M, additional, Prijoles, Eloise J., additional, Dobson, Amy, additional, Shillington, Amelle, additional, Graham, Brett H., additional, Garcia, Evan-Jacob, additional, Galindo, Maureen Kelly, additional, Ropers, Fabienne G., additional, Nibbeling, Esther AR, additional, Hubbard, Gail, additional, Karimov, Catherine, additional, Goj, Guido, additional, Bend, Renee, additional, Rath, Julie, additional, Morrow, Michelle M, additional, Millan, Francisca, additional, Salpietro, Vincenzo, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Kurki, Mitja, additional, Stevenson, Roger E, additional, Santen, Gijs W.E., additional, Zweier, Markus, additional, Campeau, Philippe M., additional, Severino, Mariasavina, additional, Reis, André, additional, Accogli, Andrea, additional, and Vasileiou, Georgia, additional

Published
2023
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13. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

Author

Platzer, Konrad, primary, Sticht, Heinrich, additional, Bupp, Caleb, additional, Ganapathi, Mythily, additional, Pereira, Elaine M., additional, Le Guyader, Gwenaël, additional, Bilan, Frederic, additional, Henderson, Lindsay B., additional, Lemke, Johannes R., additional, Taschenberger, Holger, additional, Brose, Nils, additional, Abou Jamra, Rami, additional, and Wojcik, Sonja M., additional

Published
2022
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19. De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

Author

Platzer, Konrad, primary, Sticht, Heinrich, additional, Bupp, Caleb, additional, Ganapathi, Mythily, additional, Pereira, Elaine M., additional, Le Guyader, Gwenaël, additional, Bilan, Frederic, additional, Henderson, Lindsay B., additional, Taschenberger, Holger, additional, Brose, Nils, additional, Jamra, Rami Abou, additional, and Wojcik, Sonja M., additional

Published
2021
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20. COVID-19’s Impact on Genetics at One Medical Center in New York

Author

Pereira, Elaine M., primary, Ahimaz, Priyanka, additional, Andrews, Carli, additional, Anyane-Yeboa, Kwame, additional, Arsov, Todor, additional, Berger, Sara M., additional, Chilton, Ilana, additional, Cory, Diana M., additional, Chung, Wendy K., additional, Dergham, Katia R., additional, Disco, Michele M., additional, Ernst, Michelle E., additional, Forman, Tamar, additional, Galloway, Stephanie, additional, Geltzeiler, Alexa R., additional, Giordano, Jessica L., additional, Griffin, Emily, additional, Guzman, Edwin, additional, Harkavy, Nina, additional, Hernan, Rebecca, additional, Hetzler, Anah K., additional, Iglesias, Alejandro, additional, Kakar, Rupinder, additional, Kentros, Catherine, additional, Khonje, Thandiwe C., additional, Koval, Carrie, additional, Levinson, Elana, additional, Pereira, Elaine M., additional, Robinson, Scott, additional, Ross, Meredith J., additional, Sadeque-Iqbal, Fatema, additional, Spiegel, Erica, additional, Spitz, Elana, additional, and Wapner, Ronald J., additional

Published
2020
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21. Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Author

Rönkkö, Julius, primary, Molchanova, Svetlana, additional, Revah‐Politi, Anya, additional, Pereira, Elaine M., additional, Auranen, Mari, additional, Toppila, Jussi, additional, Kvist, Jouni, additional, Ludwig, Anastasia, additional, Neumann, Julika, additional, Bultynck, Geert, additional, Humblet‐Baron, Stéphanie, additional, Liston, Adrian, additional, Paetau, Anders, additional, Rivera, Claudio, additional, Harms, Matthew B., additional, Tyynismaa, Henna, additional, and Ylikallio, Emil, additional

Published
2020
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24. Colaboradores

Author

Anyane-Yeboa, Kwame, Bregstein, Joan S., Brennan, Kathleen G., Chalom, Elizabeth Candell, Chen, Jing, Conrad, Máire A., Constantinescu, Andrei, Ditmar, Mark F., Eichenfield, Andrew H., Foca, Marc D., Garzon, Maria C., Hayes, Constance J., Hoffman, Noah J.F., Hordof, Allan J., Iglesias, Alejandro, Kaplan, Bernard S., LaRosa, Christopher, Lauren, Christine T., Lee, Alice, Leibel, Natasha, Leone, Tina A., Levin, Laura E., Maxwell, Elizabeth C., McDonough, Tiffani L., McKenzie, Steven E., Meyers, Kevin E.C., Morel, Kimberly D., Oberfield, Sharon E., Omesi, Lenore, Pereira, Elaine M., Picoraro, Joseph A., Potter, Julia, Prabhu, Elizabeth, Riviello, James J., Jr., Romo, Dina L., Rose, Carlos D., Roye, Benjamin D., Sonnett, Meridith, Soren, Karen, Starc, Thomas J., Szalontay, Luca, Teplow-Phipps, Randi, Webb, Jennifer L., and Williams, Kristen M.

Published
2022
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25. Contributors

Author

Anyane-Yeboa, Kwame, Bregstein, Joan S., Brennan, Kathleen G., Chalom, Elizabeth Candell, Chen, Jing, Conrad, Máire A., Constantinescu, Andrei, Ditmar, Mark F., Eichenfield, Andrew H., Foca, Marc D, Garzon, Maria C., Hayes, Constance J., Hoffman, Noah J.F., Hordof, Allan J., Iglesias, Alejandro, Kaplan, Bernard S., LaRosa, Christopher, Lauren, Christine T., Lee, Alice, Leibel, Natasha, Leone, Tina A., Levin, Laura E., Maxwell, Elizabeth C., McDonough, Tiffani L., McKenzie, Steven E., Meyers, Kevin E.C., Morel, Kimberly D., Oberfield, Sharon E., Omesi, Lenore, Pereira, Elaine M., Picoraro, Joseph A., Potter, Julia, Prabhu, Elizabeth, Riviello, James J., Romo, Dina L., Rosé, Carlos D., Roye, Benjamin D., Sonnett, Meridith, Soren, Karen, Starc, Thomas J., Szalontay, Luca, Teplow-Phipps, Randi, Webb, Jennifer L., and Williams, Kristen M.

Published
2021
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26. Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

Author

Lin, Angela E., Alali, Abdulrazak, Starr, Lois J., Shah, Nidhi, Beavis, Anna, Pereira, Elaine M., Lindsay, Mark E., and Klugman, Susan

Abstract

Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain‐of‐function pathogenic variants in SMAD4. The phenotype includes short stature, characteristic facial appearance, hearing loss, laryngotracheal stenosis, arthritis, skeletal abnormalities, learning and social challenges, distinctive cardiovascular defects, and a striking fibroproliferative response in the ear canals, airways, and serosal cavities (peritoneum, pleura, pericardium). Confirmation of the clinical diagnosis is usually prompted by the characteristic appearance with developmental delay and autistic‐like behavior using targeted gene sequencing or by whole exome sequencing. We describe six patients (two not previously reported) with molecularly confirmed Myhre syndrome and neoplasia. Loss‐of‐function pathogenic variants in SMAD4 cause juvenile polyposis syndrome and we hypothesize that the gain‐of‐function pathogenic variants observed in Myhre syndrome may contribute to neoplasia in the patients reported herein. The frequency of neoplasia (9.8%, 6/61) in this series (two new, four reported patients) and endometrial cancer (8.8%, 3/34, mean age 40 years) in patients with Myhre syndrome, raises the possibility of cancer susceptibility in these patients. We alert clinicians to the possibility of detecting this syndrome when cancer screening panels are used. We propose that patients with Myhre syndrome are more susceptible to neoplasia, encourage increased awareness, and suggest enhanced clinical monitoring. [ABSTRACT FROM AUTHOR]

Published
2020
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27. Homozygous missense variants in YKT6result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Author

Ma, Mengqi, Ganapathi, Mythily, Zheng, Yiming, Tan, Kai-Li, Kanca, Oguz, Bove, Kevin E., Quintanilla, Norma, Sag, Sebnem O., Temel, Sehime G., LeDuc, Charles A., McPartland, Amanda J., Pereira, Elaine M., Shen, Yufeng, Hagen, Jacob, Thomas, Christie P., Galván, Nhu Thao Nguyen, Pan, Xueyang, Lu, Shenzhao, Rosenfeld, Jill A., Calame, Daniel G., Wangler, Michael F., Lupski, James R., Pehlivan, Davut, Hertel, Paula M., Chung, Wendy K., and Bellen, Hugo J.

Abstract

YKT6 plays important roles in multiple intracellular vesicle trafficking events but has not been associated with Mendelian diseases.

Published
2024
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28. Rare pathogenic variants in WNK3cause X-linked intellectual disability

Author

Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M., Josiah, Sunday S., Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J., Hao, Le T., Li, Hong, Stevenson, Roger E., Louie, Raymond J., Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F. Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A., Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M., Barr, Eileen E., Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G., Monaghan, Kristin G., Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K., Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M., Berger, Sara M., Milla, Sarah S., Jaykumar, Ankita B., Cobb, Melanie H., Panchagnula, Shreyas, Duy, Phan Q., Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill. A., Friez, Michael J., Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E., Schwartz, Charles E., Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T., and Isidor, Bertrand

Abstract

WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown.

Published
2022
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29. Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Author

Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, and Rubboli G

Subjects
Humans, Retrospective Studies, Muscle Hypotonia, Seizures complications, Electroencephalography methods, Disks Large Homolog 4 Protein genetics, Epilepsy diagnostic imaging, Epilepsy genetics, Epilepsy complications, Brain Diseases genetics, Epilepsy, Generalized complications, Intellectual Disability genetics, Intellectual Disability complications
Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy., Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician., Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike-wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype-phenotype relationship even between individuals with the same DLG4 variants., Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requires proper investigation with sleep EEG., (© 2023 International League Against Epilepsy.)

Published
2024
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30. Expanding the phenotype of ATP6AP1 deficiency.

Author

Barua S, Berger S, Pereira EM, and Jobanputra V

Subjects
Humans, Male, Phenotype, Congenital Disorders of Glycosylation genetics, Hydrocephalus, Hypospadias, Liver Diseases, Pectus Carinatum, Vacuolar Proton-Translocating ATPases genetics
Abstract

Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit of the vacuolar (V)-ATPase protein pump. Pathogenic variants in ATP6AP1 have been described in association with a congenital disorder of glycosylation (CDG), which are highly variable, but often characterized by immunodeficiency, hepatopathy, and neurologic manifestations. Although the most striking and common clinical feature is hepatopathy, the phenotypic and genotypic spectrum of ATP6AP1-CDG continues to expand. Here, we report identical twins who presented with acute liver failure and jaundice. Prenatal features included cystic hygroma, atrial septal defect, and ventriculomegaly. Postnatal features included pectus carinatum, connective tissue abnormalities, and hypospadias. Whole-exome sequencing (WES) revealed a novel de novo in-frame deletion in the ATP6AP1 gene (c.230_232delACT;p.Tyr77del). Although both twins have the commonly reported clinical feature of hepatopathy seen in other individuals with ATP6AP1-CDG -related disorder, they do not have neurological sequelae. This report expands the phenotypic spectrum of ATP6AP1-CDG- related disorder with both probands exhibiting unique prenatal and postnatal features, including fetal ventriculomegaly, umbilical hernia, pectus carinatum, micropenis, and hypospadias. Furthermore, this case affirms that neurological features described in the initial case series on ATP6AP1-CDG do not appear to be central, whereas the prenatal and connective tissue manifestations may be more common than previously thought. This emphasizes the importance of long-term clinical follow-up and variant interpretation using current updated recommendations., (© 2022 Barua et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2022
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