hrp0095p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

FGFR3 gene mutation causes hypochondroplasia via autophagy inhibition

Che Lin , Wu Jinxia , Xu Ren , Chen Jing

Background: Fibroblast growth factor receptor 3 (FGFR3) is a negative regulator of skeletal development. Gain-of-function point mutations in FGFR3 are responsible for hypochondroplasia (HCH), one of the most common forms of dwarfism in humans. Autophagy is an evolutionarily conserved catabolic process, which is indispensable for cell homeostasis maintenance and stress responses. Dysregulation at the level of autophagic activity consequently disturbs the chondr...