| Identifier |
20230314_nanos_posters_284 |
| Title |
NSUN3 Variants Cause a Diverse Phenotypic Spectrum: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder |
| Creator |
Neringa Jurkute; Heiko Brennenstuhl; Monika Kustermann; Lindsey Van Haute; Enrico Bugiardini; Takayuki Handa; Masaru Shimura; Axel Petzold; James Acheson; Anthony G. G. Robson; William Macken; Michael G. Hanna; Robert D. S. Pitceathly; Urania Kotzaeridou; Stefan Kölker; Reginald Bittner; Johannes Mayr; Yasushi Okazaki; Kei Murayama; Holger Prokisch; Andrew R Webster; Michal Minczuk; Gavin Arno; Berthold Pemp; Georg F. Hoffmann; Wolfgang Schmidt; Patrick Yu-Wai-Man |
| Affiliation |
(NJ) (AP) (JA) (AGGR) (ARW) (GA) Moorfields Eye Hospital; (HB) (GFH) Center for Children and Adolescent Medicine; (MK) Neuromuscular Research Department, Center for Anatomy and Cell Biology, Medical University of Vienna; (LV) University of Cambridge; (EB) (WM) (MGH) (RDSP) Institute of Neurology and The National Hospital for Neurology and Neurosurgery; (TH) Department of Pediatrics, Toho University Ohashi Medical Center; (MS) Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital; (UK) (SK) Center for Pediatrics and Adolescent Medicine; (RB) (WS) Medical University of Vienna, Center of Anatomy and Cell Biology, Neuromuscular Research Department; (JM) Paracelsus Medical University; (YO) (KM) Juntendo University; (HP) Technische Universität München; (BP) Medical University of Vienna, Department of Ophthalmology and Optometry; (PY) Department of Clinical Neurosciences, University of Cambridge |
| Subject |
Genetic Disease; Optic Neuropathy; Miscellaneous |
| Description |
Mitochondrial diseases are a clinically heterogeneous group of disorders that can affect any part of the human body. The phenotypic spectrum can range from isolated ocular involvement to a severe early-onset multisystemic disorder. Recently, biallelic variants in NSUN3 were reported to cause an early-onset mitochondrial disorder in two independent reports. This study aimed to identify the missing heritability in previously unsolved cases of optic neuropathy, further explore the causality of pathogenic NSUN3 variants, and characterize the phenotypic spectrum of NSUN3-associated disease. |
| Date |
2023-03-14 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2023 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2023: Poster Session II: Neuro-Ophthalmic Disorders of Neurologic and Systemic Diseases |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s64jzjnc |
| Setname |
ehsl_novel_nam |
| ID |
2335489 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s64jzjnc |
