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.

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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
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Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes

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Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes

Giancarlo Parenti, Antonio Trabacca, Donatella Greco, Stefania Bigoni, Andrea Accogli, Gaia Esposito, Chiara Paolella, Mariateresa Zanobio, Donatella Milani, Claudia Santoro, Chiara Pantaleoni, Federica Francesca L’Erario, Livia Garavelli, Giacomina Ricciardi, Marcella Zollino, Mario Mastrangelo, Marcello Scala, Valeria Capra, Carmelo Piscopo, Paola Francesca Ajmone, Margherita Scarpato, Albina Tummolo, Vincenzo Nigro, Sandro Banfi, Francesca Nardecchia, Marta De Rinaldis, Teresa Mattina, Angela Peron, Chiara De Leonibus, Ferruccio Romano, Angelo Selicorni, Viviana Cetrangolo, Serena Galosi, Giuseppina Vitiello, Alfonsina Tirozzi, Daniele De Brasi, Stefano D’Arrigo, Giulio Piluso, Domizia Pasquetti, Pinella Failla, S. Rahman, Cecilia Daolio, Anna Grandone, Milena Mariani, Nicola Brunetti‐Pierri, Manuela Morleo, Antonietta Coppola, Alessandro De Falco, Arianna De Laurentiis, Gaetano Terrone, Claudia Ciaccio, Annalaura Torella, Corrado Romano, Carla Marini, Carmine Spampanato, F. Palmieri, Pasquale Di Letto, Valerio Bonolis
article en
1 citations

Abstract

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.

Neurology GeneticsVol. 11(6)
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)
Openalex Percentile: Top 12%
Genetics and Neurodevelopmental Disorders
1.82
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