The ciliary impact of nonciliary gene mutations

Mutations in genes encoding centriolar or ciliary proteins cause diseases collec-tively known as 'ciliopathies'. Interestingly, the Human Phenotype Ontology database lists numerous disorders that display clinical features reminiscent of ciliopathies but do not involve defects in the centriole-cilium proteome. Instead, defects in different cellular compartments may impair cilia indirectly and cause additional, nonciliopathy phenotypes. This phenotypic heterogeneity, perhaps combined with the field's centriole-cilium-centric view, may have hindered the recognition of ciliary contributions. Identifying these diseases and dissecting how the underlying gene mutations impair cilia not only will add to our under -standing of cilium assembly and function but also may open up new therapeutic avenues.

Automated summary

Mutations in genes encoding centriolar or ciliary proteins cause ciliopathies. There are numerous disorders with clinical features similar to ciliopathies listed in the Human Phenotype Ontology database, but they do not involve defects in the centriole-cilium proteome. Defects in different cellular compartments may indirectly impair cilia and cause additional, nonciliopathy phenotypes.