François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, Ilse Wallaard, Rob Verhagen, Maja Studencka-Turski, Yannis Duffourd, Sébastien Moutton, Frédédic Tran Mau-Them, Christophe Philippe, John Dean, Stephen Tennant, Alice S Brooks, Marjon A van Slegtenhorst, Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Eleina M England, Mayra Martinez Ojeda, Elizabeth C Engle, Caroline D Robson, Michelle Morrow, A Micheil Innes, Ryan Lamont, Matthea Sanderson, Elke Krüger, Christel Thauvin, Ben Distel, Laurence Faivre, Ype Elgersma, Antonio Vitobello
PURPOSE: FEM1B acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CRL2 E3 family. Several biological functions have been proposed for FEM1B, including a structurally resolved function as a sensor for redox cell status by controlling mitochondrial activity, but its implication in human disease remains elusive. METHODS: To understand the involvement of FEM1B in human disease, we made use of Matchmaker exchange platforms to identify individuals with de novo variants in FEM1B and performed their clinical evaluation...
March 7, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics