Open Access

Clinical and genetic heterogeneity of primary ciliopathies (Review)

  • Authors:
    • Ina Ofelia Focșa
    • Magdalena Budișteanu
    • Mihaela Bălgrădean
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  • Published online on: July 15, 2021     https://doi.org/10.3892/ijmm.2021.5009
  • Article Number: 176
  • Copyright: © Focșa et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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.
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September-2021
Volume 48 Issue 3

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Focșa IO, Budișteanu M and Bălgrădean M: Clinical and genetic heterogeneity of primary ciliopathies (Review). Int J Mol Med 48: 176, 2021
APA
Focșa, I.O., Budișteanu, M., & Bălgrădean, M. (2021). Clinical and genetic heterogeneity of primary ciliopathies (Review). International Journal of Molecular Medicine, 48, 176. https://doi.org/10.3892/ijmm.2021.5009
MLA
Focșa, I. O., Budișteanu, M., Bălgrădean, M."Clinical and genetic heterogeneity of primary ciliopathies (Review)". International Journal of Molecular Medicine 48.3 (2021): 176.
Chicago
Focșa, I. O., Budișteanu, M., Bălgrădean, M."Clinical and genetic heterogeneity of primary ciliopathies (Review)". International Journal of Molecular Medicine 48, no. 3 (2021): 176. https://doi.org/10.3892/ijmm.2021.5009