Pathogenic NR2F1 Variants Cause a Systemic Neurodevelopmental Ocular Phenotype Recapitulated in a Mutant Mouse Model
| Identifier | 20210222_nanos_sciplatform1_06-abstract |
| Title | Pathogenic NR2F1 Variants Cause a Systemic Neurodevelopmental Ocular Phenotype Recapitulated in a Mutant Mouse Model |
| Creator | Neringa Jurkute; Michele Bertacchi; Gavin Arno; Chiara Tocco; Ungsoo Kim; Adam Kruszewski; Robert Avery; Emma Bedoukian; Jinu Han; Sung Ahn; James Acheson; Indran Davagnanam; Richard Bowman; Marios Kaliakatsos; Ashwin Reddy; Ngozi Oluonye; Patrizia Amati-Bonneau; Majida Charif; Guy Lenaers; Isabelle Meunier; Sabine Defoort; Catherine Vincent-Delorme; Anthony Robson; Graham Holder; Luc Jeanjean Jeanjean; Antonio Martinez-Monseny; Grant Liu; Andrew Webster; Michèle Studer; Patrick Yu-Wai-Man |
| Affiliation | (NJ) (NO) (AR) (AW) Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland; (MB) (CT) (MS) Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France; (GA) Institute of Ophthalmology, University College London, London, United Kingdom of Great Britain and Northern Ireland; (UK) Kim's Eye Hospital, Seoul, Korea (Republic of); (AK) Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA; (RA) (EB) Children's Hospital of Philadelphia, Philadelphia, PA; (JH) (SA) Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea (Republic of); (JA) (ID) Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland; (RB) UCL Queen Square Institute of Neurology, London, United Kingdom of Great Britain and Northern Ireland; (MK) Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland; (AR) Royal London Hospital, Barts Health NHS Trust, London, United Kingdom of Great Britain and Northern Ireland; (RAB) (GL) Institut MitoVasc, Angers University and Hospital, Angers, France; (MC) Genetics and immuno-cell therapy Team, Mohammed First University, Oujda, Morocco; (IM) Gui de Chauliac Hospital, Montpellier, France; (SD) (CVD) CHRU de Lille, Lille, France; (GH) Department of Ophthalmology, National University of Singapore, Singapore, Singapore; (LJJ) University Hospital of Nimes, Nimes, France; (AMM) Hospital Sant Joan de Déu, Barcelona, Spain; (PYWM) University of Cambridge, Cambridge, United Kingdom of Great Britain and Northern Ireland |
| Subject | Genetic Disease; Optic Neuropathy; Pediatric Neuro-ophthalmology; Retina |
| Description | Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder - Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS). Although visual loss is a prominent feature seen in affected individuals, the molecular and cellular mechanisms contributing to optic nerve involvement remain unknown. In addition to investigation of the molecular and cellular mechanisms by which pathogenic NR2F1 variants impact on the development of the neural retina and the optic nerve, this study aimed to characterise the structural and functional changes within the visual pathway in affected individuals. |
| Date | 2021-02 |
| Language | eng |
| Format | application/pdf |
| Type | Text |
| Source | 2021 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of | NANOS Annual Meeting 2021: Scientific Platform Session I |
| Collection | Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher | North American Neuro-Ophthalmology Society |
| Holding Institution | Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management | Copyright 2021. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK | ark:/87278/s6451gck |
| Setname | ehsl_novel_nam |
| ID | 1670343 |
| Reference URL | https://collections.lib.utah.edu/ark:/87278/s6451gck |