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Publication Detail
CFAP300 mutation causing primary ciliary dyskinesia in Finland
  • Publication Type:
    Journal article
  • Authors:
    Schultz R, Elenius V, Fassad MR, Freke G, Rogers A, Shoemark A, Koistinen T, Mohamed MA, Lim JSY, Mitchison HM, Sironen AI
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  • Journal:
    Frontiers in Genetics
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  • Keywords:
    motile cilia, primary ciliary dyskinesia, CFAP300, dynein arm preassembly, diagnostics
  • Notes:
    Copyright © 2022 Schultz, Elenius, Fassad, Freke, Rogers, Shoemark, Koistinen, Mohamed, Lim, Mitchison and Sironen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (http://creativecommons.org/licenses/by/4.0/). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by chronic respiratory tract infections and in some cases laterality defects and infertility. The symptoms of PCD are caused by malfunction of motile cilia, hair-like organelles protruding out of the cell that are responsible for removal of mucus from the airways and organizing internal organ positioning during embryonic development. PCD is caused by mutations in genes coding for structural or assembly proteins in motile cilia. Thus far mutations in over 50 genes have been identified and these variants explain around 70% of all known cases. Population specific genetics underlying PCD has been reported, thus highlighting the importance of characterizing gene variants in different populations for development of gene-based diagnostics. In this study, we identified a recurrent loss-of-function mutation c.198_200delinsCC in CFAP300 causing lack of the protein product. PCD patients homozygous for the identified CFAP300 mutation have immotile airway epithelial cilia associated with missing dynein arms in their ciliary axonemes. Furthermore, using super resolution microscopy we demonstrate that CFAP300 is transported along cilia in normal human airway epithelial cells suggesting a role for CFAP300 in dynein complex transport in addition to preassembly in the cytoplasm. Our results highlight the importance of CFAP300 in dynein arm assembly and improve diagnostics of PCD in Finland.
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