Ciliopathies.
Ciliopathies.
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DOI：
10.1101/cshperspect.a028191
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发表时间：
2017-03-01
影响因子：
7.2
通讯作者：
Hildebrandt F
中科院分区：
文献类型：
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作者：
Braun DA;Hildebrandt F
nphp相关纤毛病（NPHP-RC）是一组遗传性疾病，其影响原纤毛或中心体编码蛋白的基因。除少数例外，纤毛病以常染色体隐性遗传方式遗传，受影响的个体在童年或青春期早期表现出来。NPHP-RC在遗传上是非常异质的，目前有超过90个基因的突变被描述为单基因原因。NPHP-RC的表型非常多样，包括囊性纤维化肾病、脑发育缺陷、视网膜变性、骨骼畸形、面部畸形，在某些情况下，还包括侧侧缺陷和先天性心脏病。同一基因的突变可以产生不同的表型，这取决于突变的等位基因。同时，不同的单基因之间存在广泛的表型重叠。发现纤毛病的单基因病因，有助于进一步了解纤毛病发病的分子机制和细胞通路。
NPHP-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence. NPHP-RC are genetically very heterogeneous, and currently mutations in more than 90 genes have been described as single-gene causes. The phenotypes of NPHP-RC are very diverse, and include cystic-fibrotic kidney disease, brain developmental defects, retinal degeneration, skeletal deformities, facial dysmorphism, and in some cases, laterality defects, and congenital heart disease. Mutations in the same gene can give rise to diverse phenotypes depending on the mutated allele. At the same time, there is broad phenotypic overlap between different monogenic genes. The identification of monogenic causes of ciliopathies has further the understanding of molecular mechanism and cellular pathways involved in the pathogenesis.