Ciliopathies

Ciliopathies may be framed as a genetically heterogeneous group of disorders that are caused by mutations in genes with products that localize to the cilium-centrosome complex. The phenotypes due to the altered proteins vary from cystic kidney disease and blindness to neurologic phenotypes, obesity, and diabetes. A common feature of monogenic ciliopathies such as polycystic kidney disease, nephronophthisis, Joubert's syndrome, Meckel's syndrome, and the Bardet-Biedl syndrome is that the disease-relevant gene products are expressed at primary cilia or centrosomes. Cilia are complex sensory organelles involved in the control of a variety of cellular signaling pathways, and although the complexity of these signaling pathways has been in part delineated, many essential questions remain.