Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

Bardet-Biedl syndrome (BBS; MIM 209900) is a genetic disorder characterized by defects in multiple organ systems, and the estimated prevalence ranges from one in 160,000 in northern European populations (1), [...]
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction.