Clinical and genetic heterogeneity of primary ciliopathies (Review)

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...

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Published in:International journal of molecular medicine 2021-09, Vol.48 (3), p.1, Article 176
Main Authors: Focsa, Ina Ofelia, Budisteanu, Magdalena, Balgradean, Mihaela
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Language:English
Subjects:
Cell cycle
Cell division
Cells
Genetically modified organisms
Hypotheses
Kinases
Motility
Proteins
Signal transduction
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Budisteanu, Magdalena
Balgradean, Mihaela
description 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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subjects Cell cycle
Cell division
Cells
Genetically modified organisms
Hypotheses
Kinases
Motility
Proteins
Signal transduction
title Clinical and genetic heterogeneity of primary ciliopathies (Review)
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