De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

作者：Manuela Morleo, Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A. High, Jiahai Shi, Maria T. Acosta, Margaret P Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pinar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, Ian A. Glass, Bernadette R. Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden‐Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances A. High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike‐Pyne, Alden Huang, Sarah Hutchison, Wendy J. Introne, Rosario Isasi, Kosuke Izumi, Fariha Jamal, Gail P. Jarvik, Jeffrey G. Jarvik, Suman Jayadev, Orpa Jean-Marie, Vaidehi Jobanputra, Lefkothea Karaviti, Shamika Ketkar, Dana Kiley, Gonench Kilich, Shilpa N. Kobren, Isaac S. Kohane, Jennefer N. Kohler, Susan Korrick, Mary Kozuira, Deborah Krakow, Donna M. Krasnewich, Elijah Kravets, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, Kimberly LeBlanc, Brendan Lee, Roy C. Levitt, Richard A. Lewis, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, AudreyStephannie Maghiro, Rachel Mahoney, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth R. Maravilla, Ronit Marom, Gábor Marth, Beth A. Martin, Martín G. Martín, Julián A. Martínez-Agosto, Shruti Marwaha, Jacob L. McCauley, Allyn McConkie‐Rosell, Alexa T. McCray, Elisabeth McGee, Heather C. Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Éva Morava, Paolo Moretti, John J. Mulvihill, Mariko Nakano‐Okuno, Stanley F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah A. Nickerson, Shirley Nieves‐Rodriguez, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen C. Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips III, Jennifer E. Posey, Lorraine Potocki, Barbara N. Pusey Swerdzewski, Aaron R. Quinlan, Deepak A. Rao, Anna Raper, Wendy H. Raskind, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Natalie Rosenwasser, Francis Rossignol, Maura Ruzhnikov, Ralph L. Sacco, Jacinda B. Sampson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, C. Ron Scott, Vandana Shashi, Jimann Shin, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Edward C. Smith, Kevin S. Smith, Lilianna Solnica‐Krezel, Ben Solomon, Rebecca C. Spillmann, Joan M. Stoler, Kathleen E. Sullivan, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia P. Sybert, Holly K. Tabor, Queenie K.‐G. Tan, Amelia L.M. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Rachel A. Ungar, Tiina K. Urv, Adeline Vanderver, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Melissa Walker, Stephanie E Wallace, Nicole M. Walley, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Monika Weisz Hubshman, Mark H. Wener, Tara Wenger, Monte Westerfield, Matthew T. Wheeler, Jordan Whitlock, Lynne A. Wolfe, Kim C. Worley, Changrui Xiao, Shinya Yamamoto, John Yang, Zhe Zhang, Stephan Züchner, Vincenzo Nigro, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Michele Pinelli, Sandro Banfi, Alessandra Varavallo, Angelo Selicorni, Milena Mariani, Marta Massimello, Cecilia Daolio, Valeria Capra, Andrea Accogli, Marcello Scala, Vincenzo Leuzzi, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Donatella Milani, Giuseppina Vitiello, Giulio Piluso, Corrado Romano, Pinella Failla, Donatella Greco, Chiara Pantaleoni, Claudia Ciaccio, Stefano D’Arrigo, Nicola Brunetti Pierri, Giancarlo Parenti, Antonietta Coppola, Teresa Mattina, Marcella Zollino, Simona Amenta, Albina Tummolo, Claudia Santoro, Anna Grandone, Daniele De Brasi, Antonio Varone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Angela Peron, Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Torella, Melissa Walker, Romano Tenconi, Maria Iascone, Davide Mei, Renzo Guerrini, Jasper J. van der Smagt, Hester Y. Kroes, Koen L.I. van Gassen, Muhammad Bilal, Muhammad Umair, Veronica Pingault, Tania Attié‐Bitach, Jeannine Amiel, Resham Ejaz, Lance H. Rodan, Marcella Zollino, Pankaj B. Agrawal, Filippo Del Bene, Vincenzo Nigro, David A. Sweetser, Brunella Franco · 发表于：The American Journal of Human Genetics · 年份：2023 · DOI：10.1016/j.ajhg.2023.06.012 · 被引用次数：8 · 研究领域：Cellular transport and secretion、Genetic and Kidney Cyst Diseases、Retinal Development and Disorders