Pasquale Di Letto, Chiara De Leonibus, F. Palmieri, Mariateresa Zanobio, Margherita Scarpato, Viviana Cetrangolo, S. Rahman, Angelo Selicorni, Milena Mariani, Stefano D’Arrigo, Claudia Ciaccio, Donatella Milani, Paola Francesca Ajmone, Manuela Morleo, Carmine Spampanato, Giulio Piluso, Marcella Zollino, Federica Francesca L’Erario, Donatella Greco, Valeria Capra, Marcello Scala, Ferruccio Romano, Gaetano Terrone, Alessandro De Falco, Chiara Paolella, Mario Mastrangelo, Giacomina Ricciardi, Nicola Brunetti‐Pierri, Telethon Undiagnosed Diseases Program Study Group, Vincenzo Nigro, Annalaura Torella, Sandro Banfi, Giancarlo Parenti, Valerio Bonolis, Gaia Esposito, Michele Pinelli, Giuseppina Vitiello, Cecilia Daolio, Andrea Accogli, Francesca Nardecchia, Serena Galosi, Corrado Romano, Pinella Failla, Chiara Pantaleoni, Arianna De Laurentiis, Antonietta Coppola, Teresa Mattina, Domizia Pasquetti, Albina Tummolo, Claudia Santoro, Anna Grandone, Livia Garavelli, Carla Marini, Stefania Bigoni, Carmelo Piscopo, Antonio Trabacca, Marta De Rinaldis, Daniele De Brasi, Alfonsina Tirozzi, Angela Peron
Background and Objectives: variants within a cohort of unsolved patients exhibiting NDDs from the Telethon Undiagnosed Disease Program (TUDP). Methods: critical region. Results: occurred de novo, including 10 with the recurrent n.64_65insT insertion and 1 with n.77_78insT. Structural modeling suggested that these variants disrupt the U4/U6 snRNA interaction, potentially impairing spliceosome function. Discussion: variants account for approximately 2.9% of the patients with TUDP in this study and highlight the need for integrating advanced molecular techniques and data sharing to refine diagnoses and enhance our understanding of rare genetic disorders.