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Dominant missense variants in SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities
Authors :
Moulton, Matthew J. Atala, Kristhen Zheng, Yiming Dutta, Debdeep Grange, Dorothy K. Lin, Wen-Wen Wegner, Daniel J. Wambach, Jennifer A. Duker, Angela L. Bober, Michael B. Kratz, Lisa Wise, Carol A. Oxendine, Ila Khanshour, Anas Bacino, Carlos A. Balasubramanyam, Ashok Burrage, Lindsay C. Chao, Hsiao-Tuan Chinn, Ivan Clark, Gary D. Craigen, William J. Dai, Hongzheng Emrick, Lisa T. Ketkar, Shamika Lalani, Seema R. Lee, Brendan H. Lewis, Richard A. Marom, Ronit Orengo, James P. Posey, Jennifer E. Potocki, Lorraine Rosenfeld, Jill A. Seto, Elaine Scott, Daryl A. Tarakad, Arjun Tran, Alyssa A. Vogel, Tiphanie P. Hubshman, Monika Weisz Worley, Kim Bellen, Hugo J. Wangler, Michael F. Yamamoto, Shinya Kanca, Oguz Eng, Christine M. Liu, Pengfei Ward, Patricia A. Behrens, Edward Falk, Marni Hassey, Kelly Izumi, Kosuke Kilich, Gonench Sullivan, Kathleen Vanderver, Adeline Zhang, Zhe Raper, Anna Jobanputra, Vaidehi Mikati, Mohamad McConkie-Rosell, Allyn Schoch, Kelly Shashi, Vandana Spillmann, Rebecca C. Tan, Queenie K.-G. Walley, Nicole M. Beggs, Alan H. Berry, Gerard T. Briere, Lauren C. Cobban, Laurel A. Coggins, Matthew Fieg, Elizabeth L. High, Frances Holm, Ingrid A. Korrick, Susan Loscalzo, Joseph Maas, Richard L. MacRae, Calum A. Pallais, J. Carl Rao, Deepak A. Rodan, Lance H. Silverman, Edwin K. Stoler, Joan M. Sweetser, David A. Walker, Melissa Douglas, Jessica Glanton, Emily Kobren, Shilpa N. Kohane, Isaac S. LeBlanc, Kimberly Maghiro, Audrey Stephannie C. Mahoney, Rachel McCray, Alexa T. Tan, Amelia L.M. Dasari, Surendra Lanpher, Brendan C. Lanza, Ian R. Morava, Eva Oglesbee, Devin Bademci, Guney Barbouth, Deborah Bivona, Stephanie Borja, Nicholas Gonzalez, Joanna M. Latchman, Kumarie Peart, LéShon Rebelo, Adriana Smith, Carson A. Tekin, Mustafa Thorson, Willa Zuchner, Stephan Taylor, Herman Colley, Heather A. Dayal, Jyoti G. Doss, Argenia L. Eckstein, David J. Hutchison, Sarah Krasnewich, Donna M. Mamounas, Laura A. Manolio, Teri A. Urv, Tiina K. Acosta, Maria T. D'Souza, Precilla Gropman, Andrea Macnamara, Ellen F. Maduro, Valerie V. Mulvihill, John J. Novacic, Donna Pusey Swerdzewski, Barbara N. Toro, Camilo Wahl, Colleen E. Adams, David R. Afzali, Ben Burke, Elizabeth A. Davis, Joie Delgado, Margaret Fu, Jiayu Gahl, William A. Hanchard, Neil Huang, Yan Introne, Wendy Jean-Marie, Orpa Malicdan, May Christine V. Morimoto, Marie Petcharet, Leoyklang Rossignol, Francis Sabaii, Marla Solomon, Ben Tifft, Cynthia J. Wolfe, Lynne A. Wood, Heidi Allworth, Aimee Bamshad, Michael Beck, Anita Bennett, Jimmy Blue, Elizabeth Byers, Peter Chanprasert, Sirisak Cunningham, Michael Dipple, Katrina Doherty, Daniel Earl, Dawn Glass, Ian Hing, Anne Hisama, Fuki M. Horike-Pyne, Martha Jarvik, Gail P. Jarvik, Jeffrey Jayadev, Suman Kaitryn, Emerald Lam, Christina Miller, Danny Mirzaa, Ghayda Raskind, Wendy Rosenthal, Elizabeth Shelkowitz, Emily Sheppeard, Sam Stergachis, Andrew Sybert, Virginia Wener, Mark Wenger, Tara Alvarez, Raquel L. Bejerano, Gill Bernstein, Jonathan A. Bonner, Devon Coakley, Terra R. Fisher, Paul G. Goddard, Page C. Halley, Meghan C. Hom, Jason Kohler, Jennefer N. Kravets, Elijah Martin, Beth A. Marwaha, Shruti Reuter, Chloe M. Ruzhnikov, Maura Sampson, Jacinda B. Smith, Kevin S. Sutton, Shirley Tabor, Holly K. Ungar, Rachel A. Wheeler, Matthew T. Ashley, Euan A. Byrd, William E. Crouse, Andrew B. Might, Matthew Nakano-Okuno, Mariko Whitlock, Jordan Butte, Manish J. Corona, Rosario Dell'Angelica, Esteban C. Dorrani, Naghmeh Douine, Emilie D. Fogel, Brent L. Huang, Alden Krakow, Deborah Loo, Sandra K. Martin, Martin G. Martínez-Agosto, Julian A. McGee, Elisabeth Nelson, Stanley F. Nieves-Rodriguez, Shirley Papp, Jeanette C. Parker, Neil H. Renteria, Genecee Sinsheimer, Janet S. Wan, Jijun Alvey, Justin Andrews, Ashley Bale, Jim Bohnsack, John Botto, Lorenzo Carey, John Longo, Nicola Moretti, Paolo Pace, Laura Quinlan, Aaron Velinder, Matt Viskochil, Dave Marth, Gabor Bayrak-Toydemir, Pinar Mao, Rong Westerfield, Monte Bican, Anna Cassini, Thomas Corner, Brian Hamid, Rizwan Neumann, Serena Phillips, John A. Rives, Lynette Robertson, Amy K. Ezell, Kimberly Cogan, Joy D. Hayes, Nichole Kiley, Dana Sisco, Kathy Wambach, Jennifer Wegner, Daniel Baldridge, Dustin Cole, F. Sessions Pak, Stephen Schedl, Timothy Shin, Jimann Solnica-Krezel, Lilianna Wangler, Michael F. Yamamoto, Shinya Cole, F. Sessions Rios, Jonathan Bellen, Hugo J.
Source :
Genetics in Medicine; September 2024, Vol. 26 Issue: 9
Publication Year :
2024
Abstract
We identified 2 individuals with de novo variants in SREBF2that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with sterol regulatory element binding proteins (SREBP) pathway-related disease phenotypes, but SREBF2-related disease has not been previously reported. Thus, we set out to assess the effects of SREBF2variants on SREBP pathway activation.
Details
Language :
English
ISSN :
10983600 and 15300366
Volume :
26
Issue :
9
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs66537612
Full Text :
https://doi.org/10.1016/j.gim.2024.101174