Peer-Reviewed Publication
Mol Psychiatry2026September 16, 2026Journal Article
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.
Wallid Deb1,2,3, Thomas Besnard4,5, Florence Desprez6, Benjamin Cogné4,5,7, Laura Do Souto Ferreira4, Virginie Vignard5, Sylviane Marouillat6, Louis Januel8,9, Svetlana Gorokhova8,10,11, Tiffany Busa10, Victor Morel10, Benjamin Dauriat12, Vincent Des Portes13, Eyyüp Üçtepe14, Özlem Akgün Doğan15,16, Ahmet Yeşilyurt14,17, Yasemin Alanay15,16, Anne M Slavotinek18,19,20, Yu An18, Hane Lee21,22, Jessy Hary4, Peter Kannu23, Taryn B Athey23, Ingrid M B H van de Laar24, Marjon A van Slegtenhorst24, Patricia Dickson25, Rachel Slaugh25, Fadi F Hamdan26,27, Jean-François Soucy27, Jacques L Michaud26,27,28, Alison M Muir29, Rebecca Buchert30, Tobias B Haack30,31, Dominic Imort32, Sérgio B Sousa33,34, Belinda Campos-Xavier33,34,35, Pedro M Almeida33, Borut Peterlin36, Sophie Kaspar37, Christian Netzer37, Hans Zempel37, Meghan C Towne38, Roger L Ladda39, Susan L Sell39, Lina Quteineh40, Romane Meurs40, Stylianos E Antonarakis40,41,42, Pawel Gawlinski43, Xiaofei Song44,45, Wojciech Wiszniewski43,46, Daniel G Calame47,48, Jennifer E Posey44, Frederic Ebstein5, James R Lupski44,48,49,50, Bertrand Isidor4,5, Stéphane Bézieau4,5, Frédéric Laumonnier6,51, Sébastien Küry52,53
1Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000, Nantes, France. wallid.deb@chu-nantes.fr.
2Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. wallid.deb@chu-nantes.fr.
3Laboratoire SeqOIA, Paris, France. wallid.deb@chu-nantes.fr.
4Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000, Nantes, France.
5Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
6Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN, U1253, Tours, France.
7Laboratoire SeqOIA, Paris, France.
8GCS AURAGEN, Lyon, France.
9Genetics Department, Hospices Civils de Lyon, Lyon, France.
10Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.
11Aix Marseille University, INSERM, Marseille Medical Genetics, U1251, Marseille, France.
12Service de cytogénétique et génétique médicale, CHU Limoges, Limoges, France.
13Centre de Référence des Maladies Rares et Déficience Intellectuelle, HCL Université de Lyon, Service de Neuropédiatrie HFME, Lyon, France.
14Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.
15School of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye.
16Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul, Türkiye.
17Acibadem Maslak Hospital, Istanbul, Türkiye.
18Department of Pediatrics, University of California, San Francisco, CA, USA.
19Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
20University of Cincinnati College of Medicine, Cincinnati, OH, 45229, USA.
21Department of Pathology and Laboratory Medicine, Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.
223billion, Inc., Seoul, South Korea.
23Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
24Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
25Department of Pediatrics, Washington University School of Medicine, 660 S. Euclid, Saint Louis, MO, 63110, USA.
26Centre de Recherche Azrieli du CHU Sainte-Justine, Montreal, QC, Canada.
27Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC, Canada.
28Department of Neurosciences, University of Montreal, Montreal, QC, Canada.
29GeneDx, LLC, Gaithersburg, MD, 20877, USA.
30Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.
31Center for Rare Diseases, University of Tübingen, 72076, Tübingen, Germany.
32Department of Pediatrics, Allgemeines Krankenhaus Celle, Celle, Germany.
33Medical Genetics Unit, Hospital Pediátrico, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
34University Clinic of Genetics, Faculty of Medicine, Universidade de Coimbra, Coimbra, Portugal.
35Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne (CHUV), Lausanne, Switzerland.
36Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia.
37Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
38Ambry Genetics, Aliso Viejo, CA, USA.
39Penn State Health Golisano Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.
40Medigenome, Swiss Institute for Genomic Medicine, 1207, Geneva, Switzerland.
41University of Geneva Medical School, Geneva, 1211, Switzerland.
42Academy of Athens, Athens, 10679, Greece.
43Institute of Mother and Child, Kasprzaka 17a, 01-211, Warsaw, Poland.
44Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
45Moffitt Cancer Center, Tampa, FL, 33612, USA.
46Oregon Health & Science University, Portland, OR, USA.
47Section of Pediatric Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
48Texas Children's Hospital, Houston, TX, 77030, USA.
49Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
50Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
51Service de Génétique, Centre Hospitalier Régional Universitaire, 37044, Tours, France.
52Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000, Nantes, France. sebastien.kury@chu-nantes.fr.
53Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. sebastien.kury@chu-nantes.fr.
Abstract
Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in gene regulation in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 16 de novo pathogenic variants in PCBP1 across 17 subjects from 16 un…
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