Mutations in genes encoding centriolar or ciliary proteins cause diseases collectively 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 understanding of cilium assembly and function but also may open up new therapeutic avenues.

编码中心粒或纤毛蛋白的基因突变会导致统称为“纤毛病”的疾病。有趣的是，人类表型本体数据库列出了许多疾病，这些疾病表现出让人联想到纤毛病的临床特征，但不涉及中心粒-纤毛蛋白质组的缺陷。相反，不同细胞区室的缺陷可能会间接损害纤毛并导致额外的非纤毛病表型。这种表型异质性，可能与该领域的中心粒 - 纤毛中心观点相结合，可能阻碍了对纤毛贡献的认识。识别这些疾病并剖析潜在的基因突变如何损害纤毛不仅会增加我们对纤毛组装和功能的理解，而且还可能开辟新的治疗途径。