How to cite this article: Huber C, Cormier-Daire V. 2012. Ciliary disorder of the skeleton. Am J Med Genet Part C.
Ciliary disorder of the skeleton†
Version of Record online: 12 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: New Topics in the Skeletal Dysplasias
Volume 160C, Issue 3, pages 165–174, 15 August 2012
How to Cite
Huber, C. and Cormier-Daire, V. (2012), Ciliary disorder of the skeleton. Am. J. Med. Genet., 160C: 165–174. doi: 10.1002/ajmg.c.31336
- Issue online: 19 JUL 2012
- Version of Record online: 12 JUL 2012
- skeletal disorders
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. Indeed, primary cilia play a vital role in transduction of signals in the hedgehog pathway that is especially important in skeletal development. In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib-polydactyly group (SRPs) that includes Verma–Naumoff syndrome (SRP type III), Majewski syndrome (SRP type II), Jeune syndrome (ATD), as well as Ellis–van Creveld syndrome (EVC), the Sensenbrenner syndrome, and, finally, Weyers acrofacial dysostosis. Today, 10 different genes have been identified as responsible for seven “skeletal” ciliopathies. Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2). The wide clinical variability observed for an individual ciliopathy gene supports the development of exome strategy specifically dedicated to cilia genes to identify mutations in this particularly heterogeneous group of disorders. © 2012 Wiley Periodicals, Inc.