Article
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
American journal of human genetics - 4 Dec 2025
Kröll-Hermi Ariane, Stoetzel Corinne, Etard Christelle, Halabelian Levon, Schaefer Elise, Scheidecker Sophie, Kahrizi Kimia, Payman Jamali, Geoffroy Véronique, Prasad Megana, Obringer Cathy, Ruch Laurie, Girard Amandine, Zeng Hong, Li Fengling, Plassard Damien, Keime Céline, Mattioli Francesca, Feger Claire, Piton Amélie, Fujita Atsushi, Matsumoto Naomichi, Castro Matheus Augusto Araujo, Ae Kim Chong, Ruaud Lyse, Levy Jonathan, Dozières Blandine, Tabet Anne-Claude, Wentzensen Ingrid M, Santiago-Sim Teresa, Yusupov Roman, Tveten Kristian, Smeland Marie Falkenberg, Alkhunaizi Ebba, Cowing Gina, Li Chumei, Wortmann Saskia B, Feichtinger René G, Mayr Johannes A, Gonorazky Herman, Jing Gan, Wang Xiaodong, Wang Jia, Bierhals Tatjana, Grinstein Lev, Herget Theresia, Ruiz Anna, Gabau Elisabeth, Kampmeier Antje, Kassel Olivier, Kuechler Alma, Platzer Konrad, Jamra Rami Abou, Woerner Audrey, Idleburg Michaela, Kircher Susanne Gerit, Laccone Franco, Golob Barbara, Peterlin Borut, Čuturilo Goran, Tasic Velibor, Kolvenbach Caroline M, Hildebrandt Friedhelm, Ramos Luiza L P, Kok Fernando, Buck Cecilia Barbosa, van de Laar Ingrid M B H, de Man Stella A, Taşdelen Elifcan, Sezer Abdullah, Büke Afife, Yavuz Zehra, Çomoğlu Selim Selçuk, Costin Carrie, Tran Mau Them Frédéric, Lacaze Elodie, Courtin Thomas, Héron Delphine, Keren Boris, Whalen Sandra, Roume Joelle, Yang Yanzhong, Hoffer Mariëtte J V, van Haeringen Arie, Najmabadi Hossein, Arrowsmith Cheryl H, Strähle Uwe, Dollfus Hélène, Muller Jean
Abstract excerpt
Protein arginine methyltransferase 9 (PRMT9) is part of the PRMT family, and it is suspected to function in pathways relevant to neurodevelopment. It is thought to participate in alternative splicing through interactions with the splicing factor SF3B2 (SAP145). In this study, we report 26 families (35 individuals) with bi-allelic loss-of-function variants in PRMT9, implicating PRMT9 in an autosomal-recessive...
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