doi: 10.1093/ndt/gfn033 Translational Nephrology Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies∗

Identification of genes causing inherited cystic kidney dis-eases has triggered a major interest for the concept of ‘cil-iopathies’. Indeed, almost all of the proteins involved in human renal cystic diseases are expressed in the primary cilium complex located in renal epithelial cells. Primary cilia are cellular extensions containing a microtubule-based axoneme covered by a specialized plasma membrane (Pazour GJ. J Am Soc Nephrol 2004; 15: 2528–2536). The basal body of the cilia, which templates the assembly of the microtubules, contains a centriole, which itself is part of the centrosome. Primary cilia project into the lumen, where they probably sense a variety of stimuli involved in the regulation of cell proliferation and differentiatio