NFIX missense variants that disrupt the β-hairpin loop result in a severe form of Malan syndrome in adolescence with rapidly evolving scoliosis and muscle wasting
Christal G. Delagrammatikas, Louise J. Gourlay, Manuela Priolo, Rosaria Russo, Amirsadra Ahmadi, Alberto Giuseppe Barbiroli, Riccardo Capelli, Kaitlynn Stowers, Olivia D’Annibale, Matthew Ravalin, Marco Tartaglia, Marco Nardini, Ben Cocanougher
The paper identifies severe NFIX missense variants causing a subtype of Malan syndrome with progressive musculoskeletal issues and shows variant-specific DNA-binding disruptions.
medRxiv · Jul 19, 2026 · PreprintGenetic & Genomic Medicine