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Morgul A.R.

N.P. Bochkov Medical and Genetic Research Center

Who’s behind the mask?

Authors:

Morgul A.R.

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Journal: Non Nocere. New Therapeutic Journal. 2025;(10): 110‑114

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To cite this article:

Morgul AR. Who’s behind the mask? Non Nocere. New Therapeutic Journal. 2025;(10):110‑114. (In Russ.)

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Abstract:

From frequent pneumonia to infertility. Primary ciliary dyskinesia is one disease with many faces.

Authors:

Morgul A.R.

N.P. Bochkov Medical and Genetic Research Center

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References:

  1. Despotes KA, Zariwala MA, Davis SD, Ferkol TW. Primary Ciliary Dyskinesia: A Clinical Review. Cells. 2024 Jun 4;13(11):974.  https://doi.org/10.3390/cells13110974
  2. Mitchison HM, Valente EM. Motile and non-motile cilia in human pathology: from function to phenotypes. J Pathol. 2017 Jan;241(2):294-309.  https://doi.org/10.1002/path.4843
  3. Newman L, Chopra J, Dossett C, et al. The impact of primary ciliary dyskinesia on female and male fertility: a narrative review. Hum Reprod Update. 2023 May 2;29(3):347-367.  https://doi.org/10.1093/humupd/dmad003
  4. Raidt J, Wallmeier J, Hjeij R, et al. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J. 2014 Dec;44(6):1579-1588. https://doi.org/10.1183/09031936.00052014
  5. Davis SD, Rosenfeld M, Lee HS, et al. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198.  https://doi.org/10.1164/rccm.201803-0548OC
  6. Raidt J, Riepenhausen S, Pennekamp P, et al. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations. Eur Respir J. 2024 Aug 8;64(2):2301769. https://doi.org/10.1183/13993003.01769-2023
  7. Leigh MW, Ferkol TW, Davis SD, et al. Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Ann Am Thorac Soc. 2016 Aug;13(8):1305-1313. https://doi.org/10.1513/AnnalsATS.201511-748OC
  8. Behan L, Dimitrov BD, Kuehni CE, et al. PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J. 2016 Apr;47(4):1103-1112. https://doi.org/10.1183/13993003.01551-2015
  9. Sironen A, Shoemark A, Patel M, Loebinger MR, Mitchison HM. Sperm defects in primary ciliary dyskinesia and related causes of male infertility. Cell Mol Life Sci. 2020 Jun;77(11):2029-2048. https://doi.org/10.1007/s00018-019-03389-7
  10. Dodd DO, Mechaussier S, Yeyati PL, et al. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 Apr 26;384(6694):eadf5489. https://doi.org/10.1126/science.adf5489
  11. Cindrić S, Dougherty GW, Olbrich H, et al. SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics. Am J Respir Cell Mol Biol. 2020 Mar;62(3):382-396.  https://doi.org/10.1165/rcmb.2019-0086OC
  12. Hannah WB, DeBrosse S, Kinghorn B, et al. The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. Mol Genet Genomic Med. 2019 Sep;7(9):e911. https://doi.org/10.1002/mgg3.911
  13. Taudien JE, Bracht D, Olbrich H, et al. Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia. iScience. 2024 Dec 21;28(2):111670. https://doi.org/10.1016/j.isci.2024.111670
  14. Nussbaumer M, Kieninger E, Tschanz SA, et al. Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms. ERJ Open Res. 2021 Nov 1;7(4):00353-2021. https://doi.org/10.1183/23120541.00353-2021
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