A novel variant in MFN2 linked to a lethal disorder of neonatal onset
Mashiat Zaman, Cole Chute, Julien L Marcadier, S Grewal, R Luke Wiseman, Amanda V Tyndall, Brenda L. McInnes, A Micheil Innes, Francois P Bernier, Timothy E. Shutt
The paper identifies a novel homozygous MFN2 variant R334K linked to a lethal neonatal disorder and shows it causes severe mitochondrial dysfunction, confirmed through functional studies and Drosophila modeling.
medRxiv · Sep 5, 2024 · PreprintGenetic & Genomic Medicine