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Epidemiology: The mutational diversity of cystic fibrosis

Cystic fibrosis (CF) is a common autosomal recessive disorder affecting approximately 70,000 people worldwide. The majority of people with CF are of Caucasian descent, therefore the disease is most prevalent in North America, Europe, and Australasia. However, CF can affect nearly every race and ethnicity, including African, Latin American, and Middle Eastern populations.1,2

The prevalence of CF and the spectrum of CFTR mutations vary considerably among populations and regions of the world.1

Click on the map below to learn about the most common CFTR mutations by country.1-18

Prevalence of CF and most common mutations worldwide by country

Birth prevalence is reported as number of live births per case of CF. Common/important mutations in each region are listed below the prevalence. The birth prevalence can vary greatly between ethnic groups in a country.

Adapted with permission from O'Sullivan BP, Freedman SD. Lancet. 2009;373(9678):1891-1904.

Where in the CFTR gene sequence can mutations occur? Learn more.

  1. World Health Organization. The molecular genetic epidemiology of cystic fibrosis: report of a joint meeting of WHO/ECFTN/ICF(M)A/ECFS; June 19, 2002; Genoa, Italy. © World Health Organization; 2004.
  2. Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Patient Registry 2014 Annual Data Report. Bethesda, MD. © 2015 Cystic Fibrosis Foundation.
  3. O'Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009;373(9678):1891-1904.
  4. Belgian Cystic Fibrosis Registry. The Belgian Cystic Fibrosis Registry 2011 Summary Report. Brussels, Belgium: Scientific Institute of Public Health; 2014.
  5. Bobadilla J, Macek Jr M. Cystic Fibrosis: A Worldwide Analysis of CFTR Mutations – Correlation with Incidence Data and Application to Screening. Wiley InterScience. 2002; 11.
  6. Brazilian Cystic Fibrosis Study Group. Brazilian Cystic Fibrosis Patient Registry 2013 Annual Report. São Paulo, Brazil; 2015.
  7. Cystic Fibrosis Association of New Zealand. Port CFNZ National Data Registry 2014 Report. Christchurch, New Zealand; 2015.
  8. Cystic Fibrosis Australia. Cystic Fibrosis in Australia 2013: 16th Annual Report Australian Cystic Fibrosis Data Registry. Baulkham Hills, Australia: Cystic Fibrosis Australia; 2015.
  9. Cystic Fibrosis Canada. Canadian Cystic Fibrosis Registry 2013 Annual Report. Toronto, ON: Cystic Fibrosis Canada; 2015.
  10. Cystic Fibrosis Registry of Ireland. Cystic Fibrosis Registry of Ireland 2014 Annual Report. Belfield, Dublin 4, Ireland: University College Dublin; 2016.
  11. Cystic Fibrosis Trust. UK Cystic Fibrosis Registry 2014 Annual Data Report. Bromley, United Kingdom; 2015.
  12. French Cystic Fibrosis Registry. French CF Registry 2014 Annual Data Report. Paris, France; 2016.
  13. German Cystic Fibrosis Registry. Berichtsband Qualitätssicherung Mukoviszidose 2012. Bonn, Germany; 2013.
  14. Netherlands Cystic Fibrosis Registry. Dutch CF Registry 2014 Annual Report. Baarn, the Netherlands; 2015.
  15. Makukh H, Krenkova P. A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype – phenotype correlations, relevance for newborn screening and genetic testing. J Cyst Fibros. 2010; 371-373.
  16. Naguib M, Schrijver I. Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis. J Cyst Fibros. 2006; 114.
  17. Ratbi I, Génin E. Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco. J Cyst Fibros. 2008; 441-442.
  18. Rueegg CS, Kuehni CE, Gallati S, Baumgartner M, Torresani T, Barben J. One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland. Dtsch Arztebl Int. 2013;110(20):356-363.