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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
Authors :
Shankar, Suma P. Grimsrud, Kristin Lanoue, Louise Egense, Alena Willis, Brandon Hörberg, Johanna AlAbdi, Lama Mayer, Klaus Ütkür, Koray Monaghan, Kristin G. Krier, Joel Stoler, Joan Alnemer, Maha Shankar, Prabhu R. Schaffrath, Raffael Alkuraya, Fowzan S. Brinkmann, Ulrich Eriksson, Leif A. Lloyd, Kent Rauen, Katherine A. Acosta, Maria T. Adam, Margaret Adams, David R. Alvey, Justin Amendola, Laura Andrews, Ashley Ashley, Euan A. Azamian, Mahshid S. 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 Bennet, Jimmy Berg-Rood, Beverly Bernstein, Jonathan A. Berry, Gerard T. Bican, Anna Bivona, Stephanie Blue, Elizabeth Bohnsack, John Bonner, Devon Botto, Lorenzo Boyd, Brenna Briere, Lauren C. Brokamp, Elly Brown, Gabrielle Burke, Elizabeth A. Burrage, Lindsay C. Butte, Manish J. Byers, Peter Byrd, William E. Carey, John Carrasquillo, Olveen Cassini, Thomas Peter Chang, Ta Chen Chanprasert, Sirisak Chao, Hsiao-Tuan Clark, Gary D. Coakley, Terra R. Cobban, Laurel A. Cogan, Joy D. Coggins, Matthew Cole, F. Sessions Colley, Heather A. Cooper, Cynthia M. Cope, Heidi Craigen, William J. Crouse, Andrew B. Cunningham, Michael D'Souza, Precilla Dai, Hongzheng Dasari, Surendra Davis, Joie Dayal, Jyoti G. Deardorff, Matthew Dell'Angelica, Esteban C. Dipple, Katrina Doherty, Daniel Dorrani, Naghmeh Doss, Argenia L. Douine, Emilie D. Duncan, Laura Earl, Dawn Eckstein, David J. Emrick, Lisa T. Eng, Christine M. Esteves, Cecilia Falk, Marni Fernandez, Liliana Fieg, Elizabeth L. Fisher, Paul G. Fogel, Brent L. Forghani, Irman Gahl, William A. Glass, Ian Gochuico, Bernadette Godfrey, Rena A. Golden-Grant, Katie Goldrich, Madison P. Grajewski, Alana Gutierrez, Irma Hadley, Don Hahn, Sihoun Hamid, Rizwan Hassey, Kelly Hayes, Nichole High, Frances Hing, Anne Hisama, Fuki M. Holm, Ingrid A. Hom, Jason Horike-Pyne, Martha Huang, Alden Huang, Yong Introne, Wendy Isasi, Rosario Izumi, Kosuke Jamal, Fariha Jarvik, Gail P. Jarvik, Jeffrey Jayadev, Suman Jean-Marie, Orpa Jobanputra, Vaidehi Karaviti, Lefkothea Kennedy, Jennifer Ketkar, Shamika Kiley, Dana Kilich, Gonench Kobren, Shilpa N. Kohane, Isaac S. Kohler, Jennefer N. Krakow, Deborah Krasnewich, Donna M. Kravets, Elijah Korrick, Susan Koziura, Mary Lalani, Seema R. Lam, Byron Lam, Christina LaMoure, Grace L. 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. Mak, Bryan C. Malicdan, May Christine V. Mamounas, Laura A. Manolio, Teri A. Mao, Rong Maravilla, Kenneth 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 Mefford, Heather Merritt, J. Lawrence Might, Matthew Mirzaa, Ghayda Morava, Eva Moretti, Paolo M. Nakano-Okuno, Mariko Nelson, Stan F. Newman, John H. Nicholas, Sarah K. Nickerson, Deborah Nieves-Rodriguez, Shirley Novacic, Donna Oglesbee, Devin Orengo, James P. Pace, Laura Pak, Stephen Pallais, J. Carl Palmer, Christina G.S. Papp, Jeanette C. Parker, Neil H. Phillips, John A. Posey, Jennifer E. Potocki, Lorraine Pusey, Barbara N. Quinlan, Aaron Raskind, Wendy Raja, Archana N. Rao, Deepak A. Raper, Anna Renteria, Genecee Reuter, Chloe M. Rives, Lynette Robertson, Amy K. Rodan, Lance H. Rosenfeld, Jill A. Rosenwasser, Natalie Rossignol, Francis Ruzhnikov, Maura Sacco, Ralph Sampson, Jacinda B. Saporta, Mario Scott, C. Ron Schaechter, Judy Schedl, Timothy Schoch, Kelly Scott, Daryl A. Shashi, Vandana Shin, Jimann Silverman, Edwin K. Sinsheimer, Janet S. Sisco, Kathy Smith, Edward C. Smith, Kevin S. Solem, Emily Solnica-Krezel, Lilianna Solomon, Ben Spillmann, Rebecca C. Stoler, Joan M. Sullivan, Jennifer A. Sullivan, Kathleen Sun, Angela Sutton, Shirley Sweetser, David A. Sybert, Virginia Tabor, Holly K. Tan, Amelia L.M. Queenie, K.-G. Tan Tekin, Mustafa Telischi, Fred Thorson, Willa Tifft, Cynthia J. Toro, Camilo Tran, Alyssa A. Tucker, Brianna M. Urv, Tiina K. Vanderver, Adeline Velinder, Matt Viskochil, Dave Vogel, Tiphanie P. Wahl, Colleen E. Wallace, Stephanie Walley, Nicole M. Walker, Melissa Wambach, Jennifer Wan, Jijun Wang, Lee-kai Wangler, Michael F. Ward, Patricia A. Wegner, Daniel Weisz-Hubshman, Monika Wener, Mark Wenger, Tara Perry, Katherine Wesseling Westerfield, Monte Wheeler, Matthew T. Whitlock, Jordan Wolfe, Lynne A. Worley, Kim Xiao, Changrui Yamamoto, Shinya Yang, John Zastrow, Diane B. Zhang, Zhe Zhao, Chunli Zuchner, Stephan Bellen, Hugo Mahoney, Rachel
Source :
Genetics in Medicine; July 2022, Vol. 24 Issue: 7 p1567-1582, 16p
Publication Year :
2022
Abstract
Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).
Details
Language :
English
ISSN :
10983600 and 15300366
Volume :
24
Issue :
7
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs59395317
Full Text :
https://doi.org/10.1016/j.gim.2022.03.014