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Review
. 2021 Sep;48(3):176.
doi: 10.3892/ijmm.2021.5009. Epub 2021 Jul 19.

Clinical and genetic heterogeneity of primary ciliopathies (Review)

Ina Ofelia Focșa  1 , Magdalena Budișteanu  2 , Mihaela Bălgrădean  3
Affiliations
Review

Clinical and genetic heterogeneity of primary ciliopathies (Review)

Ina Ofelia Focșa et al. Int J Mol Med. 2021 Sep.

Abstract

Ciliopathies comprise a group of complex disorders, with involvement of the majority of organs and systems. In total, >180 causal genes have been identified and, in addition to Mendelian inheritance, oligogenicity, genetic modifications, epistatic interactions and retrotransposon insertions have all been described when defining the ciliopathic phenotype. It is remarkable how the structural and functional impairment of a single, minuscule organelle may lead to the pathogenesis of highly pleiotropic diseases. Thus, combined efforts have been made to identify the genetic substratum and to determine the pathophysiological mechanism underlying the clinical presentation, in order to diagnose and classify ciliopathies. Yet, predicting the phenotype, given the intricacy of the genetic cause and overlapping clinical characteristics, represents a major challenge. In the future, advances in proteomics, cell biology and model organisms may provide new insights that could remodel the field of ciliopathies.

Keywords: cilia; ciliopathies; epistasis; modifier; oligogenic; pleiotropy; signaling.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
Schematic representation of the cilium structure. (A) Longitudinal section, (B-a) transversal view of the motile cilium and (B-b) transversal view of the primary cilium. IFT, intraflagellar transport; Wnt, wingless.
Figure 2
Figure 2
Organ and system involvement in primary ciliopathies.
Figure 3
Figure 3
Diagram of the clinical diagnosis algorithm of primary ciliopathies. Adapted with permission from (107). MTS, molar tooth sign; PKD, polycystic kydney disease; RP, retinitis pigmentosa.
See this image and copyright information in PMC

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