Ciliopathies are a group of disorders caused by an abnormal formation/function of primary cilia, which are ubiquitously expressed organelles, characterized by a mother centriole-derived basal body, a microtubule-based axoneme and a specialized membrane that harbors proteins required for signal detection.[1] The KIAA0586 gene, the human ortholog of chicken Talpid3, encodes a centrosomal protein essential for primary ciliogenesis and hedgehog signaling. This evidence concerns the gene KIAA0586 and ciliopathy.