Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 171, Issue 9, Pages 1285-1300Publisher
SPRINGER
DOI: 10.1007/s00431-011-1553-z
Keywords
Cilia/ciliopathies; Cystic kidneys; Polycystic kidney disease; ADPKD; ARPKD; Congenital hepatic fibrosis/ductal plate malformation; Nephronophthisis (NPHP); Ivemark syndrome; Meckel syndrome (MKS); Joubert syndrome (JBTS); Bardet-Biedl syndrome (BBS); Alstrom syndrome; Short-rib polydactyly syndromes; Jeune syndrome (ATD); Ellis-van Crefeld syndrome (EVC); Sensenbrenner syndrome; Primary ciliary dyskinesia (Kartagener syndrome); von Hippel-Lindau (VHL); Tuberous sclerosis (TSC); Oligogenic inheritance; Modifier; Mutational load
Categories
Funding
- Deutsche Forschungsgemeinschaft [DFG BE 3910/4-1, DFG ZE 205/14-1, SFB/TRR57]
- Deutsche Nierenstiftung
- PKD Foundation
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Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies. Literally, all organs can be affected. Frequent cilia-related manifestations are (poly)cystic kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous system, occurring either isolated or as part of syndromes. Characterization of ciliopathies and the decisive role of primary cilia in signal transduction and cell division provides novel insights into tumorigenesis, mental retardation, and other common causes of morbidity and mortality, including diabetes mellitus and obesity. New technologies (Next generation sequencing/NGS) have considerably improved genetic research and diagnostics by allowing simultaneous investigation of all disease genes at reduced costs and lower turn-around times. This is undoubtedly a result of the dynamic development in the field of human genetics and deserves increased attention in genetic counselling and the management of affected families.
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