Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

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Bibliographic Details
Title: Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Authors: Kröll-Hermi A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany., Stoetzel C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Etard C; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany., Halabelian L; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada., Schaefer E; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Scheidecker S; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Payman J; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Geoffroy V; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Prasad M; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Obringer C; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Ruch L; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Girard A; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Zeng H; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada., Li F; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada., Plassard D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France., Keime C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France; Plateforme GenomEast, Infrastructure France Génomique, Strasbourg, France., Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France., Feger C; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Piton A; Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, France., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Castro MAA; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil., Ae KC; Unidade de Genetica, Instituto da Crianca, HC FMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil., Ruaud L; Université de Paris, UMR 1141 NEURODIDEROT, INSERM, Département de Génétique, Hôpital Universitaire Robert Debré, APHP Nord, Paris, France., Levy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France., Dozières B; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France., Tabet AC; AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, Paris, France; Neuroscience Department, Génétique Humaine et Fonction Cognitive Unit, Pasteur Institute, Paris, France., Wentzensen IM; GeneDx Inc., Gaithersburg, MD 20877, USA., Santiago-Sim T; GeneDx Inc., Gaithersburg, MD 20877, USA., Yusupov R; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Smeland MF; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Cowing G; McMaster University Medical Center, Hamilton, ON, Canada., Li C; McMaster University Medical Center, Hamilton, ON, Canada., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud UMC, Nijmegen, the Netherlands., Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON, Canada., Jing G; Department of Pediatric Neurology, West China Second University Hospital, Sichuan University, Chengdu, China., Wang X; Cipher Gene Ltd., Beijing, China., Wang J; Cipher Gene Ltd., Beijing, China., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Grinstein L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ruiz A; Genetics Laboratory, Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Kampmeier A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany., Kassel O; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany., Kuechler A; Institute of Human Genetics, University Medical Center Essen, University of Duisburg-Essen, Essen, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Woerner A; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Idleburg M; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Kircher SG; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria., Laccone F; Institute of Medical Genetics, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Vienna, Austria., Golob B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Tasic V; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia., Kolvenbach CM; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Ramos LLP; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil., Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo 01308-000, Brazil; Mendelics Genomic Analysis, Sao Paulo, Sao Paulo 04013-000, Brazil., Buck CB; School of Medicine, Anhembi Morumbi University, Piracicaba, Sao Paulo 13425-380, Brazil., van de Laar IMBH; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, the Netherlands., Taşdelen E; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye., Sezer A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye., Büke A; Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Türkiye., Yavuz Z; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye., Çomoğlu SS; Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye., Costin C; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Tran Mau Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France; INSERM UMR1231 GAD, 21000 Dijon, France., Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France., Courtin T; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Héron D; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Whalen S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs', Hôpital de la Pitié Salpêtrière, Paris, France., Roume J; Department of Clinical Genetics, Centre de Référence 'AnDDI Rares', Poissy Hospital GHU PIFO, Poissy, France., Yang Y; Department of Cancer Genetics and Epigenetics, Beckman Research Institute, City of Hope Cancer Center, Duarte, CA, USA., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Arrowsmith CH; Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Princess Margaret Cancer Centre and Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 2M9, Canada., Strähle U; Karlsruhe Institute of Technology (KIT), Institute of Biological and Chemical System (IBCS), Eggenstein-Leopoldshafen, Germany; Centre for Organismal Studies (COS), University of Heidelberg, Im Neuenheimer Feld 223, 69120 Heidelberg, Germany., Dollfus H; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Centre de Référence pour les affections rares en génétique ophtalmologique (CARGO), Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr., Muller J; Laboratoire de Génétique Médicale, UMR_S INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg, Strasbourg, France; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Unité Fonctionnelle de Bioinformatique Médicale appliquée au diagnostic (UF7363), Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address: jeanmuller@unistra.fr.
Source: American journal of human genetics [Am J Hum Genet] 2025 Dec 04; Vol. 112 (12), pp. 2943-2960. Date of Electronic Publication: 2025 Nov 18.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2025.10.014