Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
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DOI：
10.12703/p7-36
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Katsanis N
中科院分区：
文献类型：
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作者：
Praveen K;Davis EE;Katsanis N
原发性纤毛运动障碍（PCD）是一种纤毛病，但代表了这类疾病的唯一实体，导致运动纤毛功能障碍。PCD的特征是儿童期出现的呼吸问题、不孕症和约50%的个体中的原位缺陷，估计患病率约为1/10，000活产。由于缺乏疾病意识，PCD的诊断可能会延长，再加上症状可能与其他更常见的遗传性疾病混淆，如囊性纤维化或导致频繁呼吸道感染的环境损伤。PCD是一种主要的常染色体隐性遗传疾病，具有遗传异质性，鉴定了>30个致病基因，对遗传诊断提出了重大挑战。在这里，我们提供了一个概述的PCD作为一种疾病强调受损的纤毛运动;我们讨论了最近的进展，揭示PCD的遗传基础;我们讨论了从PCD基因发现，这提高了我们的理解能动纤毛大会的分子知识;我们推测如何加速诊断，连同详细的表型数据，将塑造这种疾病的遗传和功能架构。
Primary ciliary dyskinesia (PCD) is a ciliopathy, but represents the sole entity from this class of disorders that results from the dysfunction of motile cilia. Characterized by respiratory problems appearing in childhood, infertility, and situs defects in ~50% of individuals, PCD has an estimated prevalence of approximately 1 in 10,000 live births. The diagnosis of PCD can be prolonged due to a lack of disease awareness, coupled with the fact that symptoms can be confused with other more common genetic disorders, such as cystic fibrosis, or environmental insults that result in frequent respiratory infections. A primarily autosomal recessive disorder, PCD is genetically heterogeneous with >30 causal genes identified, posing significant challenges to genetic diagnosis. Here, we provide an overview of PCD as a disorder underscored by impaired ciliary motility; we discuss the recent advances towards uncovering the genetic basis of PCD; we discuss the molecular knowledge gained from PCD gene discovery, which has improved our understanding of motile ciliary assembly; and we speculate on how accelerated diagnosis, together with detailed phenotypic data, will shape the genetic and functional architecture of this disorder.