Springer Nature is making Coronavirus research free. View research | View latest news | Sign up for updates

Carrier status for 3 most frequentCFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

  • 74 Accesses

  • 3 Citations


We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of theCFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of theseCFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.

This is a preview of subscription content, log in to check access.


  1. Afzelius BA, Mossberg B, 1995. Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited diseases, 7th ed., McGraw-Hill, New York: 3943–3954.

  2. Augarten A, Kerem BS, Yahav Y, Noiman S, Rivlin Y, Tal A, et al. 1993. Mild cystic fibrosis and normal or borderline sweat test in patients with 3849 + 10 kb C>T mutation. Lancet 342: 25–26.

  3. Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring G, Sail GD, et al. 2000. Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. Eur J Hum Genet 8: 109–118.

  4. Bozkowa K, Golebiowska K, Rutkowski J, Nowakowska A, Holzer J, 1971. Epidemiology of mucoviscidosis in children in Poland. Ped Pol 46: 677.

  5. Cystic Fibrosis Consortium. Cystic Fibrosis Mutation database [Internet; last updated Jul 2006]. Available from:

  6. Cystic Fibrosis Genetic Analysis Consortium, 1994. Population variation of common cystic fibrosis mutations. Human Mutat 4: 167–177.

  7. Dork T, Macek M, Mekus F, Tummler B, Tzountzouris J, Casals T, et al. 2000. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet 106: 259–268.

  8. El Zein L, Omran H, Bouvagnet P, 2003. Lateralization defects and ciliary dyskinesia: lessons from algae. Trends Genet 19: 162–167.

  9. Geremek M, Witt M, 2004. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions J Appl Genet 3: 347–361.

  10. Guichard C, Harricane M-C, Lafitte J-J, Godard P, Zaegel M, Tack V, 2001. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet 68: 1030–1035.

  11. Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, et al. 2006.DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 174: 120–126.

  12. Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, et al. 2004. Loci for primary ciliary dyskinesia map to chromosome 16p12.1–12.2 and 15q13.1–15.1 in Faroe Islands and Israeli Druze genetic isolates. J Med Genet 41: 233–240.

  13. Liechti-Gallati S, Kraemer R, 1995. Cystic fibrosis mutations and immotile cilia syndrome. Clin Genet 47: 328–329.

  14. Meeks M, Walne A, Spiden S, Simpson H, Musaffi-Georgy H, Hamam HD, 2000. A locus for primary ciliary dyskinesia maps to chromosome 19q. J Med Genet 37: 241–244.

  15. NIH Consensus Development Program. Genetic testing for Cystic Fibrosis, 1997. [Internet, modified Apr 1997]. Available from: 06html.htm

  16. Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, et al. 2002. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 30: 143–144.

  17. Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, et al. 1999. Loss-of-function mutations in a human gene related toChlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet 65: 1508–1519.

  18. Pier GB, Grout M, Zaidi T, Meluleni G, Mueschenborn SS, Banting G, 1998.Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 393: 79–82.

  19. Romeo G, Devoto M, Galietta LJV, 1989. Why is the cystic fibrosis gene so frequent? Hum Genet 84: 1–5.

  20. Rodman DM, Zamudio S, 1991. The cystic fibrosis heterozygote-advantage in surviving cholera? Med Hypothesis 36: 253–258.

  21. Walkowiak J, Herzig KH, Witt M, Pogorzelski A, Piotrowski R, Barra E, 2001. Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude exocrine pancreatic insufficiency in cystic fibrosis patients. Eur J Clin Invest 31: 798–801.

  22. Witt M, Bal J, Maciejko D, Mazurczak T, 1990. Frequency of the CFTR gene mutations in the Polish cystic fibrosis patients. Ped Pol 72: 665–668.

  23. Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K, 1993. A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families. Clin Genet 44: 44–45.

Download references

Author information

Correspondence to Ewa Ziętkiewicz.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Skrzypczak, U., Rutkiewicz, E., Pogorzelski, A. et al. Carrier status for 3 most frequentCFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype. J Appl Genet 48, 85–88 (2007).

Download citation


  • cilia
  • cystic fibrosis
  • primary ciliary dyskinesia