Unmasking the ciliopathies: Craniofacial defects and the primary cilium

Cortes, Claudio R., Metzis, Vicki and Wicking, Carol (2015) Unmasking the ciliopathies: Craniofacial defects and the primary cilium. Wiley Interdisciplinary Reviews: Developmental Biology, 4 6: 637-653. doi:10.1002/wdev.199

Author Cortes, Claudio R.
Metzis, Vicki
Wicking, Carol
Title Unmasking the ciliopathies: Craniofacial defects and the primary cilium
Journal name Wiley Interdisciplinary Reviews: Developmental Biology   Check publisher's open access policy
ISSN 1759-7692
Publication date 2015-11-01
Year available 2015
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1002/wdev.199
Open Access Status Not yet assessed
Volume 4
Issue 6
Start page 637
End page 653
Total pages 17
Place of publication Hoboken, NJ, United States
Publisher John Wiley and Sons
Collection year 2016
Language eng
Abstract Over the past decade, the primary cilium has emerged as a pivotal sensory organelle that acts as a major signaling hub for a number of developmental signaling pathways. In that time, a vast number of proteins involved in trafficking and signaling have been linked to ciliary assembly and/or function, demonstrating the importance of this organelle during embryonic development. Given the central role of the primary cilium in regulating developmental signaling, it is not surprising that its dysfunction results in widespread defects in the embryo, leading to an expanding class of human congenital disorders known as ciliopathies. These disorders are individually rare and phenotypically variable, but together they affect virtually every vertebrate organ system. Features of ciliopathies that are often overlooked, but which are being reported with increasing frequency, are craniofacial abnormalities, ranging from subtle midline defects to full-blown orofacial clefting. The challenge moving forward is to understand the primary mechanism of disease given the link between the primary cilium and a number of developmental signaling pathways (such as hedgehog, platelet-derived growth factor, and WNT signaling) that are essential for craniofacial development. Here, we provide an overview of the diversity of craniofacial abnormalities present in the ciliopathy spectrum, and reveal those defects in common across multiple disorders. Further, we discuss the molecular defects and potential signaling perturbations underlying these anomalies. This provides insight into the mechanisms leading to ciliopathy phenotypes more generally and highlights the prevalence of widespread dysmorphologies resulting from cilia dysfunction.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2016 Collection
Institute for Molecular Bioscience - Publications
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