Ciliopathies are complex genetic multi‐system disorders causally related to abnormal assembly or function of motile or non‐motile cilia. While most human cells possess a non‐motile sensory/primary cilium (PC) during development and/or in adult tissues, motile cilia are restricted to specialised cells. As a result, PC‐associated ciliopathies are characterised by high phenotypic variability with extensive clinical and genetic overlaps. In the present review, we have focused on cerebral developmental anomalies, which are commonly found in PC‐associated ciliopathies and which have mostly been linked to Hedgehog signalling defects. In addition, we have reviewed emerging evidence that PC dysfunctions could be directly or indirectly involved in the mechanisms underlying malformations of cerebral cortical development including primary microcephaly.

中文翻译：

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遗传性脑异常中的纤毛

纤毛病是复杂的遗传多系统疾病，与运动或非运动纤毛的异常组装或功能有关。虽然大多数人类细胞在发育过程中和/或在成体组织中具有非运动的感觉/初级纤毛 (PC)，但运动纤毛仅限于特化细胞。因此，PC 相关纤毛病的特点是表型变异性高，具有广泛的临床和遗传重叠。在本综述中，我们关注大脑发育异常，这些异常常见于 PC 相关纤毛病，并且主要与 Hedgehog 信号传导缺陷有关。此外，我们审查了新出现的证据，表明 PC 功能障碍可能直接或间接参与大脑皮质发育畸形的潜在机制，包括原发性小头畸形。