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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Authors :
Kohler, Jennefer N. Legro, Nicole R. Baldridge, Dustin Shin, Jimann Bowman, Angela Ugur, Berrak Jackstadt, Madelyn M. Shriver, Leah P. Patti, Gary J. Zhang, Bo Feng, Wenjia McAdow, Anthony R. Goddard, Pagé Ungar, Rachel A. Jensen, Tanner Smith, Kevin S. Fresard, Laure Alvarez, Raquel Bonner, Devon Reuter, Chloe M. McCormack, Colleen Kravets, Elijah Marwaha, Shruti Holt, James M. Acosta, Maria T. Adam, Margaret Adams, David R. Alvarez, Raquel L. Alvey, Justin Amendola, Laura Andrews, Ashley Ashley, Euan A. 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 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. 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, Hsiao-Tuan Chinn, Ivan Clark, Gary D. Coakley, Terra R. Cobban, Laurel A. Cogan, Joy D. Coggins, Matthew Sessions Cole, F. Colley, Heather A. Cope, Heidi Corner, Brian Corona, Rosario Craigen, William J. Crouse, Andrew B. Cunningham, Michael D’Souza, Precilla Dai, Hongzheng Dasari, Surendra Davis, Joie Dayal, Jyoti G. Dell’Angelica, Esteban C. Dickson, Patricia Dipple, Katrina Doherty, Daniel Dorrani, Naghmeh Doss, Argenia L. Douine, Emilie D. Earl, Dawn Eckstein, David J. Emrick, Lisa T. Eng, Christine M. Ezell, Kimberly Falk, Marni Fieg, Elizabeth L. Fisher, Paul G. Fogel, Brent L. Forghani, Irman Gahl, William A. Glass, Ian Gochuico, Bernadette Goddard, Page C. Godfrey, Rena A. Golden-Grant, Katie Grajewski, Alana Hadley, Don Hahn, Sihoun Halley, Meghan C. Hamid, Rizwan Hassey, Kelly Hayes, Nichole High, Frances Hing, Anne Hisama, Fuki M. Holm, Ingrid A. Hom, Jason Horike-Pyne, Martha Huang, Alden Hutchison, Sarah Introne, Wendy Isasi, Rosario Izumi, Kosuke Jamal, Fariha Jarvik, Gail P. Jarvik, Jeffrey Jayadev, Suman Jean-Marie, Orpa Jobanputra, Vaidehi Karaviti, Lefkothea Ketkar, Shamika Kiley, Dana Kilich, Gonench Kobren, Shilpa N. Kohane, Isaac S. Kohler, Jennefer N. Korrick, Susan Kozuira, Mary 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 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 Lawrence Merritt, J. Might, Matthew Mirzaa, Ghayda Morava, Eva Moretti, Paolo Mulvihill, John Nakano-Okuno, Mariko Nelson, Stanley F. Neumann, Serena Newman, John H. Nicholas, Sarah K. Nickerson, Deborah Nieves-Rodriguez, Shirley Novacic, Donna Oglesbee, Devin Orengo, James P. Pace, Laura Pak, Stephen Carl Pallais, J. Palmer, Christina G.S. Papp, Jeanette C. Parker, Neil H. Phillips, John A. Posey, Jennifer E. Potocki, Lorraine Pusey Swerdzewski, Barbara N. Quinlan, Aaron Rao, Deepak A. Raper, Anna Raskind, Wendy 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 Schaechter, Judy Schedl, Timothy Schoch, Kelly Scott, Daryl A. Ron Scott, C. Seto, Elaine Shashi, Vandana Shin, Jimann Silverman, Edwin K. Sinsheimer, Janet S. Sisco, Kathy Smith, Edward C. Smith, Kevin S. Solnica-Krezel, Lilianna Solomon, Ben Spillmann, Rebecca C. Stoler, Joan M. Sullivan, Kathleen Sullivan, Jennifer A. Sun, Angela Sutton, Shirley Sweetser, David A. Sybert, Virginia Tabor, Holly K. Tan, Queenie K.-G. Tan, Amelia L.M. Tarakad, Arjun 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 Wallace, Stephanie Walley, Nicole M. Wambach, Jennifer Wan, Jijun Wangler, Michael F. Ward, Patricia A. Wegner, Daniel Hubshman, Monika Weisz Wener, Mark Wenger, Tara Westerfield, Monte Wheeler, Matthew T. Whitlock, Jordan Wolfe, Lynne A. Worley, Kim Xiao, Changrui Yamamoto, Shinya Yang, John Zhang, Zhe Zuchner, Stephan Worthey, Elizabeth A. Ashley, Euan A. Montgomery, Stephen B. Fisher, Paul G. Postlethwait, John De Camilli, Pietro Solnica-Krezel, Lila Bernstein, Jonathan A. Wheeler, Matthew T.
Source :
Genetics in Medicine; September 2024, Vol. 26 Issue: 9
Publication Year :
2024
Abstract
The function of FAM177A1and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1to be a critical immune-associated gene. One previous case study has linked FAM177A1to a neurodevelopmental disorder in 4 siblings.
Details
Language :
English
ISSN :
10983600 and 15300366
Volume :
26
Issue :
9
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs66389251
Full Text :
https://doi.org/10.1016/j.gim.2024.101166