Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Ronit MaromBo ZhangMegan E WashingtonI-Wen SongLindsay C BurrageVittoria C RossiAva S BerrierAnika G LindseyJacob LesinskiMichael L NonetJian ChenDustin BaldridgeGary A SilvermanV Reid SuttonJill Anne RosenfeldAlyssa A TranM John HicksDavid R MurdockHongzheng DaiMaryAnn WeisShalini N JhangianiDonna M MuznyRichard A GibbsRichard C CaswellCarrie PottingerDeirdre CilliersKaren Stalsnull nullDavid EyreDeborah KrakowTim SchedlStephen C PakBrendan H LeePublished in: PLoS genetics (2023)
We report dominant negative variants in the KIF5B kinesin motor domain in individuals with osteogenesis imperfecta. This study expands the spectrum of kinesin-related disorders and identifies dysregulated signaling targets for KIF5B in skeletal development.