Nature Communications (Jul 2022)
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
- Salima El Chehadeh,
- Kyung Ah Han,
- Dongwook Kim,
- Gyubin Jang,
- Somayeh Bakhtiari,
- Dongseok Lim,
- Hee Young Kim,
- Jinhu Kim,
- Hyeonho Kim,
- Julia Wynn,
- Wendy K. Chung,
- Giuseppina Vitiello,
- Ioana Cutcutache,
- Matthew Page,
- Jozef Gecz,
- Kelly Harper,
- Ah-reum Han,
- Ho Min Kim,
- Marja Wessels,
- Allan Bayat,
- Alberto Fernández Jaén,
- Angelo Selicorni,
- Silvia Maitz,
- Arjan P. M. de Brouwer,
- Anneke Vulto-van Silfhout,
- Martin Armstrong,
- Joseph Symonds,
- Sébastien Küry,
- Bertrand Isidor,
- Benjamin Cogné,
- Mathilde Nizon,
- Claire Feger,
- Jean Muller,
- Erin Torti,
- Dorothy K. Grange,
- Marjolaine Willems,
- Michael C. Kruer,
- Jaewon Ko,
- Amélie Piton,
- Ji Won Um
Affiliations
- Salima El Chehadeh
- Service de Génétique Médicale, Institut de Génétique Médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg
- Kyung Ah Han
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Dongwook Kim
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Gyubin Jang
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Somayeh Bakhtiari
- Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children’s Hospital
- Dongseok Lim
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Hee Young Kim
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Jinhu Kim
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Hyeonho Kim
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Julia Wynn
- Departments of Pediatrics, Columbia University Medical Center
- Wendy K. Chung
- Departments of Pediatrics, Columbia University Medical Center
- Giuseppina Vitiello
- Department of Molecular Medicine and Medical Biotechnologies, Federico II University Hospital
- Ioana Cutcutache
- Translational Medicine, UCB Pharma
- Matthew Page
- Translational Medicine, UCB Pharma
- Jozef Gecz
- Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide
- Kelly Harper
- Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide
- Ah-reum Han
- Center for Biomolecular and Cellular Structure, Institute for Basic Science
- Ho Min Kim
- Center for Biomolecular and Cellular Structure, Institute for Basic Science
- Marja Wessels
- Department of Clinical Genetics, Erasmus University Medical Center
- Allan Bayat
- Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center
- Alberto Fernández Jaén
- Department of Pediatrics Neurology, Quirónsalud Hospital & Universidad Europea
- Angelo Selicorni
- Department of Pediatrics, Center for Fragile Child, ASST Lariana Sant’Anna Hospital, San Fermo della Battaglia
- Silvia Maitz
- Fondazione MBBM
- Arjan P. M. de Brouwer
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center
- Anneke Vulto-van Silfhout
- Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center
- Martin Armstrong
- Translational Medicine, UCB Pharma
- Joseph Symonds
- Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals
- Sébastien Küry
- Service de Génétique Médicale, CHU Nantes
- Bertrand Isidor
- Service de Génétique Médicale, CHU Nantes
- Benjamin Cogné
- Service de Génétique Médicale, CHU Nantes
- Mathilde Nizon
- Service de Génétique Médicale, CHU Nantes
- Claire Feger
- Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d’Alsace (IGMA), Hôpitaux Universitaires de Strasbourg
- Jean Muller
- Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d’Alsace (IGMA), Université de Strasbourg et INSERM
- Erin Torti
- GeneDx
- Dorothy K. Grange
- Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine
- Marjolaine Willems
- Service de Génétique Médicale, Reference Centre AD SOOR, AnDDI-RARE, Inserm U1298, INM, Arnaud de Villeneuve Hospital and University of Montpellier
- Michael C. Kruer
- Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children’s Hospital
- Jaewon Ko
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- Amélie Piton
- Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg
- Ji Won Um
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST)
- DOI
- https://doi.org/10.1038/s41467-022-31566-z
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 19
Abstract
The protein SLITRK2 plays an important role in synaptic communication. This study identifies X-linked SLITRK2 variants that underlie neurodevelopmental disorders by impairing excitatory synapses.
