PDF(Pubmed)
Abstract：
Ciliopathies comprise a group of complex disorders, with involvement of the majority of organs and systems. In total, >180 causal genes have been identified and, in addition to Mendelian inheritance, oligogenicity, genetic modifications, epistatic interactions and retrotransposon insertions have all been described when defining the ciliopathic phenotype. It is remarkable how the structural and functional impairment of a single, minuscule organelle may lead to the pathogenesis of highly pleiotropic diseases. Thus, combined efforts have been made to identify the genetic substratum and to determine the pathophysiological mechanism underlying the clinical presentation, in order to diagnose and classify ciliopathies. Yet, predicting the phenotype, given the intricacy of the genetic cause and overlapping clinical characteristics, represents a major challenge. In the future, advances in proteomics, cell biology and model organisms may provide new insights that could remodel the field of ciliopathies.
摘要：
纤毛病包括一组复杂的疾病，涉及大多数器官和系统。总的来说,已经确定了>180个因果基因，除了孟德尔遗传,寡原性,遗传修饰,在定义纤毛病表型时，已经描述了上位性相互作用和反转录转座子插入。值得注意的是，单一的结构和功能受损，微小的细胞器可能导致高度多效性疾病的发病机理。因此，已经做出了联合努力来确定遗传基质并确定临床表现的病理生理机制，以诊断和分类纤毛病变。然而，预测表型，考虑到遗传原因的复杂性和重叠的临床特征，这是一个重大挑战。在未来,蛋白质组学的进展，细胞生物学和模型生物可能提供新的见解，可以重塑纤毛病领域。
