Ciliopathies

被引：291

作者：

Braun, Daniela A. ^{[1
]}

Hildebrandt, Friedhelm ^{[1
]}

机构：

[1] Boston Childrens Hosp, Harvard Med Sch, Div Nephrol, Boston, MA 02115 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY | 2017年 / 9卷 / 03期

关键词：

BARDET-BIEDL-SYNDROME; FAMILIAL JUVENILE NEPHRONOPHTHISIS; ASPHYXIATING THORACIC DYSTROPHY; RIB-POLYDACTYLY SYNDROME; FACIAL-DIGITAL SYNDROME; INTRAFLAGELLAR TRANSPORT PROTEIN; SYNDROME-RELATED DISORDER; SYNDROME JOUBERT-SYNDROME; MEDULLARY CYSTIC-DISEASE; NORWEGIAN ELKHOUND DOGS;

D O I：

10.1101/cshperspect.a028191

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Nephronophthisis-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 dimorphism, 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 furthered the understanding of molecular mechanism and cellular pathways involved in the pathogenesis.

引用

页数：28

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