Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E Alhuzaimi, James J Dowling, Susan Walker, Kimberly Amburgey, Robin Z Hayeems, Lance H Rodan, Marc A Schwartz, Jonathan Picker, Sally A Lynch, Aditi Gupta, Kristen J Rasmussen, Lisa A Schimmenti, Eric W Klee, Zhiyv Niu, Katherine E Agre, Ilana Chilton, Wendy K Chung, Anya Revah-Politi, P Y Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E Hainline, Katie Sapp, Marjolaine Willems, Ange-Line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E L Temple, Ying Zhu, Joshua J Baker, Ingrid E Scheffer, Fiona J Gardiner, Amy L Schneider, Alison M Muir, Heather C Mefford, Amy Crunk, Elizabeth M Heise, Francisca Millan, Kristin G Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J Amor, Jessica O Boyce, Angela T Morgan, Michael S Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Weisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M White, David B Ascher, Annette Schenck, Paul J Lockhart, John Christodoulou, Tiong Yang Tan
Neurodevelopmental disorders are highly heterogenous conditions resulting from abnormalities of brain architecture and/or function. FBXW7 (F-box and WD-repeat-domain-containing 7), a recognized developmental regulator and tumor suppressor, has been shown to regulate cell-cycle progression and cell growth and survival by targeting substrates including CYCLIN E1/2 and NOTCH for degradation via the ubiquitin proteasome system. We used a genotype-first approach and global data-sharing platforms to identify 35 individuals harboring de novo and inherited FBXW7 germline monoallelic chromosomal deletions and nonsense, frameshift, splice-site, and missense variants associated with a neurodevelopmental syndrome...
April 7, 2022: American Journal of Human Genetics