Authors
Silvestre Cuinat, Valérie Cormier-Daire, Jeremie Rosain, Céline Huber, Elsa Ferriere, Benjamin Fournier, Morgane Cheminant, Martin Castelle, Paul Bastard, Nicolas Noel, Katia Bourdic, Capucine Picard, Despina Moshous, Virginie Courteille, Nizar Mahlaoui, Jacinta Bustamante, Gislène Collobert, Cyril Mignot, Boris Keren, Séverine Drunat, Sophie Rondeau, Alexia Rabec, Alicia Besson, Nicolas Chatron, Gaetan Lesca, Audrey Laurent, Jérémie Mortreux, Marine Serveaux Dancer, Gabriel Dejeans, Claire Poggi, Radka Stoeva, Alissandre Lecordier, Céline Poirsier, Anne Dieux, Francoise Sarrot-Reynauld, Béatrice Laudier, Maelle Le Besnerais, Anne-Marie Guerrot, Mathilde Nizon, Benjamin Cogne, Bertrand Isidor, Sophie Julia, Sarra Bouri, Mathieu Fusaro, Marjolaine Willems, Narcisse Elenga, Succès Remadji Dobian, Mody Diop, Salomé Pacaud, Claire Dichamp, Elisabeth Sarrazin, Amaia Lasa-Aranzasti, Eduardo Fidel Tizzano, Ivon Cusco Marti, Andrea Martin Nalda, Ana Felipe-Rucián, David Gómez-Andres, Marta Codina-Solà, Paula Fernandez, Jacques Gabriel Riviere, Pere Soler-Palacín, Alberto Fernández-Jaén, Teresa Carrión-Mera, Insa Borgmann, Christin Johnsen, Lars Schlotawa, Matthias Kettwig, Jessica Hoffmann, Christiane Lex, Carsten Speckmann, Sandra von Hardenberg, Martin Wetzke, Victoria G Paul, Matthias Vockel, Judit Horvath, Andreas Busche, Niklas Hirschberger, Moneef Shoukier, Isabel Filges, Julie De Geyter, Tahsin Stefan Barakat, Isabella Borg, Anna Kłosowska, Lena Głuszkiewicz, Stephanie Allen, Deirdre Cilliers, Patricia Ann Foley, Sally Ann Lynch, Ciara McDonnell, Ivona Sansović, Ljubica Odak, Katarina Vulin, Janni Majgaard Jensen, Inge Søkilde Pedersen, Anja Ernst, Elifcan Taşdelen, Mustafa Kılıç, Esra Kılıç, Umut Altunoğlu, Burak Tatlı, Burcu Akman, Ravza Nur Yıldırım, Semra Gürsoy, Özlem Giray Bozkaya, Marcello Niceta, Cecilia Mancini, Andrea Ciolfi, Giulia Severi, Marilù Capelli, Daniela Melis, Roberta Onesimo, Chiara Leoni, Diana Carli, Alessandro Mussa, Giuseppe Zampino, Andrea Citterio, Claudio Graziano, Ilaria Donati, Maria Accadia, Luigi Bisceglia, Alessandro Bruselles, Marco Tartaglia, Tania Barragán-Arévalo, Philip M Boone, Ryan W Nelson, Sara Cabet, Annabelle Arlt, Alexander Hustinx, Hannah Klinkhammer, Peter Krawitz, Jeanne Amiel, Auragen Consortium, Irene Valenzuela Palafoll, Felipe Suarez, Marion Delous, Sylvie Mazoyer, Patrick Edery, Audrey Putoux
Published in
Genetics in medicine : official journal of the American College of Medical Genetics. Pages 102632. Jun 19, 2026. Epub Jun 19, 2026.
Abstract
Biallelic variants in the minor spliceosomal gene RNU4ATAC were successively identified in Taybi-Linder/MOPD1 (Microcephalic osteodysplastic primordial dwarfism type I), Roifman, and Lowry-Wood syndromes, characterized by variable microcephaly, short stature, neurodevelopmental impairment, skeletal dysplasia, and immunodeficiency. Two-thirds of the reported individuals present with Taybi-Linder syndrome, the first described and most severe form.
We collected clinical and molecular data from individuals with biallelic RNU4ATAC variants through various French and European networks and clinics, to refine the phenotypic spectrum of RNU4ATAC-opathies.
We enrolled 69 participants and identified 18 new pathogenic variants. We report a significant proportion of attenuated/atypical presentations, novel rare symptoms, and, unexpectedly, a broad spectrum of autoimmune/inflammatory manifestations, affecting nearly half of the participants. Integrating our data with the 109 published cases, we propose a novel classification based on the main manifestations, immunodeficiency and microcephalic primordial dwarfism. Using computer-assisted facial analysis, we also demonstrated the existence of a specific dysmorphic pattern in RNU4ATAC-opathies, distinct between some sub-syndromes.
We present a large cohort of individuals with RNU4ATAC-opathies and expand the phenotypic spectrum to pauci-symptomatic forms, indicating that these diseases are likely to remain underdiagnosed.
PMID:
42322192
Bibliographic data and abstract were imported from PubMed on 20 Jun 2026.
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