Center for Human Genetics Bioscientia, Konrad-Adenauer-Str. 17, 55218 Ingelheim, Germany.
Eur J Pediatr. 2012 Sep;171(9):1285-300. doi: 10.1007/s00431-011-1553-z. Epub 2011 Sep 7.
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.
纤毛是一种存在于大多数细胞表面的类似天线的细胞器。它们可以转导分子信号，并促进细胞与其环境之间的相互作用。纤毛功能障碍被证明是广泛重叠的、临床上和遗传上异质的表型的基础，这些表型统称为纤毛病。实际上，所有器官都可能受到影响。常见的纤毛相关表现为（多囊）肾病、视网膜变性、内脏反位、心脏缺陷、多指（趾）畸形、其他骨骼异常以及中枢和周围神经系统缺陷，这些表现可单独出现，也可作为综合征的一部分出现。纤毛病的特征以及初级纤毛在信号转导和细胞分裂中的决定性作用，为肿瘤发生、智力迟钝和其他常见发病率和死亡率的原因（包括糖尿病和肥胖症）提供了新的见解。新技术（“下一代测序/NGS”）通过降低成本和缩短周转时间，同时研究所有疾病基因，极大地改善了遗传研究和诊断。这无疑是人类遗传学领域动态发展的结果，值得在遗传咨询和受影响家庭的管理中得到更多关注。
