Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy
Joseph T.C. Shieh, Jesus A Tintos-Hernández, Chaya Nautiyal Murali, Monica Penon‐Portmann, Marco Flores‐Méndez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah S. Damseh, Roberto Mendoza‐Londono, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, Cesar Alves, , Xilma Rosa Ortiz-Gonzalez
This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.
medRxiv · Jan 30, 2023 · PreprintGenetic & Genomic Medicine