De novo variants in DENND5B cause a neurodevelopmental disorder
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Scala, Marcello | Tomati, Valeria | Ferla, Matteo | Lena, Mariateresa | Cohen, Julie, S | Fatemi, Ali | Brokamp, Elly | Bican, Anna | Phillips, John, A | Koziura, Mary, E | Nicouleau, Michael | Rio, Marlene | Siquier, Karine | Boddaert, Nathalie | Musante, Ilaria | Tamburro, Serena | Baldassari, Simona | Iacomino, Michele | Scudieri, Paolo | Rosenfeld, Jill, A | Bellus, Gary | Reed, Sara | Al Saif, Hind | Russo, Rossana, Sanchez | Walsh, Matthew, B | Cantagrel, Vincent | Crunk, Amy | Gustincich, Stefano | Ruggiero, Sarah, M | Fitzgerald, Mark, P | Helbig, Ingo | Striano, Pasquale | Severino, Mariasavina | Salpietro, Vincenzo | Pedemonte, Nicoletta | Zara, Federico | Acosta, Maria, T | Adams, David, R | Alvarez, Raquel, L | Alvey, Justin | Allworth, Aimee | Andrews, Ashley | Ashley, Euan, A | Afzali, Ben | Bacino, Carlos, A | Bademci, Guney | Balasubramanyam, Ashok | Baldridge, Dustin | Bale, Jim | Bamshad, Michael | Barbouth, Deborah | Bayrak-Toydemir, Pinar | Beck, Anita | Beggs, Alan, H | Behrens, Edward | Bejerano, Gill | Bellen, Hugo, J | Bennett, Jimmy | Bernstein, Jonathan, A | Berry, Gerard, T | Bivona, Stephanie | Blue, Elizabeth | Bohnsack, John | Bonner, Devon | Botto, Lorenzo | Briere, Lauren, C | Brown, Gabrielle | Burke, Elizabeth, A | Burrage, Lindsay, C | Butte, Manish, J | Byers, Peter | Byrd, William, E | Carey, John | Carrasquillo, Olveen | Cassini, Thomas | Chang, Ta, Chen Peter | Chanprasert, Sirisak | Chao, Hsiaotuan | Chinn, Ivan | Clark, Gary, D | Coakley, Terra, R | Cobban, Laurel, A | Cogan, Joy, D | Coggins, Matthew | Cole, F, Sessions | Colley, Heather, A | Cope, Heidi | Corona, Rosario | Craigen, William, J | Crouse, Andrew, B | Cunningham, Michael | D’souza, Precilla | Dai, Hongzheng | Dasari, Surendra | Davis, Joie | Dayal, Jyoti, G | Delgado, Margaret | Dell'Angelica, Esteban, C | Dipple, Katrina | Doherty, Daniel | Dorrani, Naghmeh | Doss, Argenia, L | Douine, Emilie, D | Earl, Dawn | Eckstein, David, J | Emrick, Lisa, T | Eng, Christine, M | Falk, Marni | Fieg, Elizabeth, L | Fisher, Paul, G | Fogel, Brent, L | Forghani, Irman | Fu, Jiayu | Gahl, William, A | Glass, Ian | Goddard, Page, C | Godfrey, Rena, A | Grajewski, Alana | Gropman, Andrea | Halley, Meghan, C | Hamid, Rizwan | Hanchard, Neal | Hassey, Kelly | Hayes, Nichole | High, Frances | Hing, Anne | Hisama, Fuki, M | Holm, Ingrid, A | Hom, Jason | Horike-Pyne, Martha | Huang, Alden | Huang, Yan | Hutchison, Sarah | Introne, Wendy | Isasi, Rosario | Izumi, Kosuke | Jarvik, Gail, P | Jarvik, Jeffrey | Jayadev, Suman | Jean-Marie, Orpa | Jobanputra, Vaidehi | Kaitryn, Emerald | Ketkar, Shamika | Kiley, Dana | Kilich, Gonench | Kobren, Shilpa, N | Kohane, Isaac, S | Kohler, Jennefer, N | Korrick, Susan | Krakow, Deborah | Krasnewich, Donna, M | Kravets, Elijah | Lalani, Seema, R | Lam, Byron | Lam, Christina | Lanpher, Brendan, C | Lanza, Ian, R | Leblanc, Kimberly | Lee, Brendan, H | Levitt, Roy | Lewis, Richard, A | Liu, Pengfei | Liu, Xue, Zhong | Longo, Nicola | Loo, Sandra, K | Loscalzo, Joseph | Maas, Richard, L | Macnamara, Ellen, F | Macrae, Calum, A | Maduro, Valerie, V | Maghiro, Audreystephannie | Mahoney, Rachel | Malicdan, May, Christine V | Mamounas, Laura, A | Manolio, Teri, A | Mao, Rong | Marom, Ronit | Marth, Gabor | Martin, Beth, A | Martin, Martin, G | Martínez-Agosto, Julian, A | Marwaha, Shruti | Mccauley, Jacob | Mcconkie-Rosell, Allyn | Mccray, Alexa, T | Mcgee, Elisabeth | Might, Matthew | Miller, Danny | Mirzaa, Ghayda | Morava, Eva | Moretti, Paolo | Morimoto, Marie | Mulvihill, John, J | Nakano-Okuno, Mariko | Nelson, Stanley, F | Nieves-Rodriguez, Shirley | Novacic, Donna | Oglesbee, Devin | Orengo, James, P | Pace, Laura | Pak, Stephen | Pallais, J, Carl | Papp, Jeanette, C | Parker, Neil, H | Petcharet, Leoyklang | Posey, Jennifer, E | Potocki, Lorraine | Swerdzewski, Barbara, N Pusey | Quinlan, Aaron | Rao, Deepak, A | Raper, Anna | Raskind, Wendy | Renteria, Genecee | Reuter, Chloe, M | Rives, Lynette | Robertson, Amy, K | Rodan, Lance, H | Rosenthal, Elizabeth | Rossignol, Francis | Ruzhnikov, Maura | Sabaii, Marla | Sacco, Ralph | Sampson, Jacinda, B | Saporta, Mario | Schaechter, Judy | Schedl, Timothy | Schoch, Kelly | Scott, Daryl, A | Seto, Elaine | Sharma, Prashant | Shashi, Vandana | Shelkowitz, Emily | Sheppeard, Sam | Shin, Jimann | Silverman, Edwin, K | Sinsheimer, Janet, S | Sisco, Kathy | Smith, Edward, C | Smith, Kevin, S | Solnica-Krezel, Lilianna | Solomon, Ben | Spillmann, Rebecca, C | Stergachis, Andrew | Stoler, Joan, M | Sullivan, Kathleen | Sullivan, Jennifer, A | Sutton, Shirley | Sweetser, David, A | Sybert, Virginia | Tabor, Holly, K | Tan, Null-, G | Tan, Amelia, L M | Tarakad, Arjun | Taylor, Herman | Tekin, Mustafa | Telischi, Fred | Thorson, Willa | Tifft, Cynthia, J | Toro, Camilo | Tran, Alyssa, A | Ungar, Rachel, A | Urv, Tiina, K | Vanderver, Adeline | Velinder, Matt | Viskochil, Dave | Vogel, Tiphanie, P | Wahl, Colleen, E | Walker, Melissa | Walley, Nicole, M | Wambach, Jennifer | Wan, Jijun | Wang, Lee-Kai | Wangler, Michael, F | Ward, Patricia, A | Wegner, Daniel | Weisz Hubshman, Monika | Wener, Mark | Wenger, Tara | Westerfield, Monte | Wheeler, Matthew, T | Whitlock, Jordan | Wolfe, Lynne, A | Worley, Kim | Yamamoto, Shinya | Zhang, Zhe | Zuchner, Stephan
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CCSD ; Elsevier (Cell Press) -
International audience.
In this study, we identify de novo missense variants in DENND5B as the cause of a neurodevelopmental disorder with dysmorphism and epilepsy. We show that these variants impair intracellular vesicle trafficking, lipid uptake and intracellular distribution, and protein folding, leading to complex neurological manifestations.
