Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes
Our findings reinforce the critical role of <i>RNU4-2</i> variants in syndromic NDDs and underscore the importance of noncoding regions in genetic diagnoses. These findings show that <i>RNU4-2</i> 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.
Authors
- Giancarlo Parenti (ORCID: https://orcid.org/0000-0002-6287-5748)
- Antonio Trabacca
- Donatella Greco (ORCID: https://orcid.org/0000-0003-1319-1363)
- Stefania Bigoni (ORCID: https://orcid.org/0000-0003-0336-7097)
- Andrea Accogli (ORCID: https://orcid.org/0000-0001-8724-6721)
- Gaia Esposito
- Chiara Paolella (ORCID: https://orcid.org/0000-0001-6658-3358)
- Mariateresa Zanobio (ORCID: https://orcid.org/0000-0002-3750-1592)
- Donatella Milani (ORCID: https://orcid.org/0000-0002-3087-8514)
- Claudia Santoro (ORCID: https://orcid.org/0000-0003-4547-0500)
- Chiara Pantaleoni (ORCID: https://orcid.org/0000-0003-4417-1672)
- Federica Francesca L’Erario
- Livia Garavelli (ORCID: https://orcid.org/0000-0002-7684-3982)
- Giacomina Ricciardi (ORCID: https://orcid.org/0000-0003-0686-2499)
- Marcella Zollino (ORCID: https://orcid.org/0000-0003-4871-9519)
- Mario Mastrangelo (ORCID: https://orcid.org/0000-0001-7664-5807)
- Marcello Scala (ORCID: https://orcid.org/0000-0003-2194-7239)
- Valeria Capra (ORCID: https://orcid.org/0000-0002-3097-0388)
- Carmelo Piscopo
- Paola Francesca Ajmone (ORCID: https://orcid.org/0000-0002-0624-4634)
- Margherita Scarpato
- Albina Tummolo (ORCID: https://orcid.org/0000-0001-8823-8061)
- Vincenzo Nigro (ORCID: https://orcid.org/0000-0002-3378-5006)
- Sandro Banfi (ORCID: https://orcid.org/0000-0002-6541-8833)
- Francesca Nardecchia (ORCID: https://orcid.org/0000-0002-0808-2827)
- Marta De Rinaldis (ORCID: https://orcid.org/0000-0003-4147-0175)
- Teresa Mattina
- Angela Peron (ORCID: https://orcid.org/0000-0002-1769-6548)
- Chiara De Leonibus (ORCID: https://orcid.org/0000-0003-4440-3402)
- Ferruccio Romano (ORCID: https://orcid.org/0009-0005-3933-0597)
- Angelo Selicorni (ORCID: https://orcid.org/0000-0001-6187-3727)
- Viviana Cetrangolo (ORCID: https://orcid.org/0000-0002-4583-6181)
- Serena Galosi (ORCID: https://orcid.org/0000-0002-4717-699X)
- Giuseppina Vitiello (ORCID: https://orcid.org/0000-0002-8109-4293)
- Alfonsina Tirozzi (ORCID: https://orcid.org/0000-0002-6052-1807)
- Daniele De Brasi (ORCID: https://orcid.org/0000-0002-6079-4063)
- Stefano D’Arrigo (ORCID: https://orcid.org/0000-0001-5188-9418)
- Giulio Piluso (ORCID: https://orcid.org/0000-0001-9418-125X)
- Domizia Pasquetti (ORCID: https://orcid.org/0000-0002-8220-3420)
- Pinella Failla (ORCID: https://orcid.org/0000-0003-3969-7266)
- S. Rahman
- Cecilia Daolio
- Anna Grandone (ORCID: https://orcid.org/0000-0002-6343-4768)
- Milena Mariani (ORCID: https://orcid.org/0000-0002-7446-7418)
- Nicola Brunetti‐Pierri (ORCID: https://orcid.org/0000-0002-6895-8819)
- Manuela Morleo (ORCID: https://orcid.org/0000-0002-7553-3245)
- Antonietta Coppola (ORCID: https://orcid.org/0000-0002-4845-4293)
- Alessandro De Falco (ORCID: https://orcid.org/0000-0003-1569-1556)
- Arianna De Laurentiis (ORCID: https://orcid.org/0009-0001-9520-7666)
- Gaetano Terrone (ORCID: https://orcid.org/0000-0002-0298-0714)
- Claudia Ciaccio (ORCID: https://orcid.org/0000-0002-4100-7028)
- Annalaura Torella (ORCID: https://orcid.org/0000-0003-2479-6018)
- Corrado Romano (ORCID: https://orcid.org/0000-0003-1049-0683)
- Carla Marini
- Carmine Spampanato
- F. Palmieri
- Pasquale Di Letto (ORCID: https://orcid.org/0009-0001-0214-8004)
- Valerio Bonolis
Institutions
- Università Cattolica del Sacro Cuore (IT)
- University of Basilicata (IT)
- Istituto Giannina Gaslini (IT)
- Agostino Gemelli University Polyclinic (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Oasi Maria SS (IT)
- Federico II University Hospital (IT)
- University of Campania "Luigi Vanvitelli" (IT)
- Ospedale Sant'Anna (IT)
- Scuola Superiore Meridionale (IT)
- Telethon Institute Of Genetics And Medicine (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University of Genoa (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-10-20
- DOI
- https://doi.org/10.1212/nxg.0000000000200312
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82