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Joubert综合征(Joubert syndrome)是一类常染色体隐性遗传神经发育障碍疾病,主要症状表现为共济失调、肌张力低、呼吸和眼动异常、认知障碍以及发育迟缓等,此外,还不同程度地间杂其他多器官病变。Joubert综合征的典型影像学特征为“臼齿征”(molar tooth sign),由小脑蚓部发育不良或缺如,小脑上脚和皮质脊髓束交叉减少或缺失等所致。目前,已发现20多种Joubert综合征致病基因,有趣的是,它们所编码的蛋白质大都与细胞纤毛(cilium)的结构和功能密切相关。纤毛广泛参与机体的发育和多种细胞功能,其结构和功能异常所致疾病统称为纤毛疾病(ciliopathies)。Joubert综合征是一种典型的纤毛疾病,然而,对于这些纤毛病变基因如何导致神经发育障碍尚知之甚少。该文讨论了Joubert综合征与纤毛的相关性,并重点阐述了Joubert综合征致病基因在神经发育中的作用及机制。
Joubert syndrome is a type of autosomal recessive neurodevelopmental disorder characterized by ataxia, low muscle tone, abnormal breathing and eye movement, cognitive impairment, and retardation, among other things To the extent of miscellaneous other organ lesions. The typical imaging features of Joubert’s syndrome are “molar tooth sign”, which is caused by the hypoplasia or absence of cerebellar vermis, the reduction or loss of cross between the cerebellum and the corticospinal tract. So far, more than 20 pathogenic genes have been found in Joubert syndrome. Interestingly, most of the proteins they encode are closely related to the structure and function of cilium. Cilia is widely involved in the development of the body and a variety of cellular functions, the diseases caused by structural and functional abnormalities are collectively referred to as ciliopathies. Joubert’s syndrome is a classic ciliary disease, however, little is known about how these ciliated lesion genes lead to neurodevelopmental disorders. This article discusses the correlation between Joubert’s syndrome and cilia, and focuses on the role and mechanism of Joubert’s syndrome-causing genes in neurodevelopment.