Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.

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.