Haploinsufficiency of KPNA7 causes otosclerosis, likely due to the release of import inhibition of PTHrP and the reactivation of chondrogenesis in the globuli interossei
Tammy Benteau, Nelly Abdelfatah, Anne Griffin, Cindy Penney, Pingzhao Hu, Susan G. Stanton, Guangju Zhai, Maxime Maheu, Terry‐Lynn Young
This study identifies a KPNA7 mutation causing otosclerosis by disrupting PTHrP nuclear transport and reactivating chondrogenesis in the otic capsule.
bioRxiv · Aug 22, 2025 · PreprintGenetics