BBS7 encodes a core component of the BBSome, a protein coat complex essential for trafficking specific membrane proteins to primary cilia 1. The BBSome associates with the ciliary membrane and binds RAB3IP/Rabin8, a guanine nucleotide exchange factor for Rab8, facilitating Rab8-GTP localization to cilia and promoting vesicle docking and fusion at the ciliary base. BBS7 also regulates sonic hedgehog (SHH) pathway signaling through ciliary smoothened (SMO) trafficking, maintaining periodontal ligament homeostasis and cell migration/angiogenesis 2. Mutations in BBS7 cause Bardet-Biedl syndrome (BBS), a ciliopathic disorder characterized by retinitis pigmentosa, obesity, polydactyly, and renal/endocrine dysfunction 3. BBS7 mutations account for approximately 5.7% of BBS cases across diverse populations 4. Clinical manifestations include progressive cone-rod dystrophy with central retinal photoreceptor degeneration, dental anomalies (tooth agenesis, microdontia, taurodontism), and developmental delay 15. The retinal phenotype associated with BBS7 mutations appears more severe than BBS1-associated disease 4. Notably, BBS7 mutations can exhibit triallelic inheritance patterns, where additional mutations in other ciliopathy genes exacerbate disease severity 6.