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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Affiliation:1. Laboratory of Genetics in Ophthalmology, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France;2. Center for Medical Genetics and Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium;3. Department of Ophthalmology, King Abdul-Aziz University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia;4. Sorbonne Université, INSERM, Centre National de la Recherche Scientifique, Institut de la Vision, 75012 Paris, France;5. Pediatric Ophthalmology Division, Dhahran Eye Specialist Hospital, Dhahran 34257, Saudi Arabia;6. Department of Pathology, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium;7. Cell Sorting Facility, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France;8. Endocrinology, Gynecology, and Pediatric Diabetology Department, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France;9. Department of Pediatric Radiology, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France;10. Pediatric Neurology Department, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France;11. Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institute of Genetic Diseases, Imagine and Paris University, 75015 Paris, France;12. Service d’Ophtalmologie, Centre Hospitalier Intercommunal de Créteil, Assistance Publique-Hôpitaux de Paris, 94000 Créteil, France;13. Ophthalmology Department, University Hospital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France;14. Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM, Direction de l''Hospitalisation et de l''Organisation des Soins (DHOS), Centres d''Investigations Cliniques (CIC) 1423, 75012 Paris, France;15. Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France;16. Académie des Sciences, Institut de France, 75006 Paris, France;17. Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, PA 15213, USA;18. Institute of Ophthalmology, University College of London, London EC1V 9EL, UK
Abstract:
Keywords:synaptic membrane exocytosis gene  congenital cone-rod synaptic disorder  CRSD  syndromic  neurodevelopmental or pancreatic involvement  stationary versus degenerative retinal disease  differential diagnosis  exome sequencing
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