Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by
IFT172
Dandan Chen, Yuhan Wang, Pengyao Ren, Yangyang Zhou, Chun Zhang, Waner Wang, Jiayi Geng, Yitong Chai, Jiajia Xie, Shuangjie Li, Zhongyi Yan, Xiaoqing Wang, Lei Zhang ABSTRACT
IFT172 is a core component of intraflagellar transport complex B (IFT‐B), and pathogenic IFT172 variants disrupt ciliary transport, receptor localization, and tissue‐specific signaling. This review summarizes evidence linking IFT172 dysfunction to neurological, retinal, skeletal, renal, and syndromic ciliopathy phenotypes, with emphasis on Bardet‐Biedl syndrome, Joubert‐spectrum disease, orofaciodigital syndrome, Mainzer–Saldino syndrome, and retinal degeneration. Current data support a primary role for IFT172 in IFT‐train assembly, tip remodeling, anterograde‐to‐retrograde transition, and cilia‐dependent signaling; downstream metabolic, oxidative, and inflammatory changes are interpreted as context‐dependent secondary modules rather than uniform linear cascades. We further discuss diagnostic interpretation and the practical boundaries of gene, splice‐correction, and pathway‐modulation strategies. By aligning molecular mechanisms with organ vulnerability, this review provides a concise framework for interpreting IFT172‐associated ciliopathies and for prioritizing future translational studies.