Nature Communications (May 2021)
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
- Sukhleen Kour,
- Deepa S. Rajan,
- Tyler R. Fortuna,
- Eric N. Anderson,
- Caroline Ward,
- Youngha Lee,
- Sangmoon Lee,
- Yong Beom Shin,
- Jong-Hee Chae,
- Murim Choi,
- Karine Siquier,
- Vincent Cantagrel,
- Jeanne Amiel,
- Elliot S. Stolerman,
- Sarah S. Barnett,
- Margot A. Cousin,
- Diana Castro,
- Kimberly McDonald,
- Brian Kirmse,
- Andrea H. Nemeth,
- Dhivyaa Rajasundaram,
- A. Micheil Innes,
- Danielle Lynch,
- Patrick Frosk,
- Abigail Collins,
- Melissa Gibbons,
- Michele Yang,
- Isabelle Desguerre,
- Nathalie Boddaert,
- Cyril Gitiaux,
- Siri Lynne Rydning,
- Kaja K. Selmer,
- Roser Urreizti,
- Alberto Garcia-Oguiza,
- Andrés Nascimento Osorio,
- Edgard Verdura,
- Aurora Pujol,
- Hannah R. McCurry,
- John E. Landers,
- Sameer Agnihotri,
- E. Corina Andriescu,
- Shade B. Moody,
- Chanika Phornphutkul,
- Maria J. Guillen Sacoto,
- Amber Begtrup,
- Henry Houlden,
- Janbernd Kirschner,
- David Schorling,
- Sabine Rudnik-Schöneborn,
- Tim M. Strom,
- Steffen Leiz,
- Kali Juliette,
- Randal Richardson,
- Ying Yang,
- Yuehua Zhang,
- Minghui Wang,
- Jia Wang,
- Xiaodong Wang,
- Konrad Platzer,
- Sandra Donkervoort,
- Carsten G. Bönnemann,
- Matias Wagner,
- Mahmoud Y. Issa,
- Hasnaa M. Elbendary,
- Valentina Stanley,
- Reza Maroofian,
- Joseph G. Gleeson,
- Maha S. Zaki,
- Jan Senderek,
- Udai Bhan Pandey
Affiliations
- Sukhleen Kour
- Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center
- Deepa S. Rajan
- Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center
- Tyler R. Fortuna
- Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center
- Eric N. Anderson
- Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center
- Caroline Ward
- Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center
- Youngha Lee
- Department of Biomedical Sciences, Seoul National University College of Medicine
- Sangmoon Lee
- Department of Biomedical Sciences, Seoul National University College of Medicine
- Yong Beom Shin
- Department of Rehabilitative Medicine, Pusan National University School of Medicine
- Jong-Hee Chae
- Department of Pediatrics, Seoul National University College of Medicine
- Murim Choi
- Department of Biomedical Sciences, Seoul National University College of Medicine
- Karine Siquier
- Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR
- Vincent Cantagrel
- Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR
- Jeanne Amiel
- Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Paris University, Imagine Institute
- Elliot S. Stolerman
- Greenwood Genetic Center
- Sarah S. Barnett
- Department of Laboratory Medicine and Pathology, Mayo Clinic
- Margot A. Cousin
- Center for Individualized Medicine, Mayo Clinic
- Diana Castro
- Department of Pediatrics and Neurology, University of Texas Southwestern Medical Center
- Kimberly McDonald
- University of Mississippi Medical Center
- Brian Kirmse
- Division of Genetics, University of Mississippi Medical Center
- Andrea H. Nemeth
- Nuffield Department of Clinical Neurosciences, University of Oxford
- Dhivyaa Rajasundaram
- Department of Pediatrics, Division of Health Informatics, Childrens Hospital of Pittsburgh
- A. Micheil Innes
- Department of Medical Genetics and Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary
- Danielle Lynch
- Department of Medical Genetics and Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary
- Patrick Frosk
- Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba
- Abigail Collins
- Department of Pediatrics and Neurology, Children’s Hospital of Colorado, University of Colorado School of Medicine
- Melissa Gibbons
- Department of Pediatrics and Neurology, Children’s Hospital of Colorado, University of Colorado School of Medicine
- Michele Yang
- Department of Pediatrics and Neurology, Children’s Hospital of Colorado, University of Colorado School of Medicine
- Isabelle Desguerre
- Department of Pediatric Neurology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute
- Nathalie Boddaert
- Department of Pediatric Radiology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute
- Cyril Gitiaux
- Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University
- Siri Lynne Rydning
- Department of Neurology, Oslo University Hospital
- Kaja K. Selmer
- Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo
- Roser Urreizti
- Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER
- Alberto Garcia-Oguiza
- Hospital Universitario Miguel Servet
- Andrés Nascimento Osorio
- Hospital Sant Joan de Déu
- Edgard Verdura
- Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III
- Aurora Pujol
- Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III
- Hannah R. McCurry
- Center for Mendelian Genomics, Broad Institute of MIT and Harvard
- John E. Landers
- Department of Neurology, University of Massachusetts Medical School
- Sameer Agnihotri
- Department of Neurological Surgery, University of Pittsburgh School of Medicine
- E. Corina Andriescu
- Department of Pediatrics, University of Texas Health Science Center
- Shade B. Moody
- Department of Pediatrics, University of Texas Health Science Center
- Chanika Phornphutkul
- Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Warren Alpert Medical School of Brown University
- Maria J. Guillen Sacoto
- GeneDx
- Amber Begtrup
- GeneDx
- Henry Houlden
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Janbernd Kirschner
- Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg
- David Schorling
- Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg
- Sabine Rudnik-Schöneborn
- Division of Human Genetics, Medical University Innsbruck
- Tim M. Strom
- Institute of Human Genetics, Faculty of Medicine, Technical University Munich
- Steffen Leiz
- Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics
- Kali Juliette
- Department of Neurology, Gillette Children’s Specialty Healthcare
- Randal Richardson
- Department of Neurology, Gillette Children’s Specialty Healthcare
- Ying Yang
- Department of Pediatrics, Peking University First Hospital
- Yuehua Zhang
- Department of Pediatrics, Peking University First Hospital
- Minghui Wang
- The First People’s Hospital of Changde City
- Jia Wang
- Cipher Gene Ltd
- Xiaodong Wang
- Cipher Gene Ltd
- Konrad Platzer
- Institute of Human Genetics, University of Leipzig Medical Center
- Sandra Donkervoort
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Carsten G. Bönnemann
- Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health
- Matias Wagner
- Institute of Human Genetics, Klinikum rechts der IsarTechnical, University of Munich
- Mahmoud Y. Issa
- Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre
- Hasnaa M. Elbendary
- Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre
- Valentina Stanley
- Departments of Neurosciences and Pediatrics, Rady Children’s Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego
- Reza Maroofian
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Joseph G. Gleeson
- Departments of Neurosciences and Pediatrics, Rady Children’s Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego
- Maha S. Zaki
- Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre
- Jan Senderek
- Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich
- Udai Bhan Pandey
- Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center
- DOI
- https://doi.org/10.1038/s41467-021-22627-w
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.
