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CFTR Mutations: 242 are known to be CF‑causing1*

Approximately 2000 mutations in the CFTR gene have been identified to date, although the majority are extremely rare. Not all CFTR mutations lead to CF. To date, only 242 CFTR mutations have been confirmed as CF-causing.1-7

  • F508del is the most common CFTR mutation worldwide
    • Up to 92% of patients with cystic fibrosis (CF) have an F508del mutation on at least one allele
    • This frequency varies among countries and ethnic groups
  • Frequency and mutational diversity vary among countries

Most Commonly Occurring Mutations in Selected Regions

Mutation United States Canada Europe Australia
621+1G→T X X X
1717-1G→A X X
2789+5G→A X
3120+1G→A X
3849+10kbC→T X
A455E X
F508del X X X X
G542X X X X X
G551D X X X X
N1303K X X X
R117H X X
R553X X
W1282X X X
Most common mutations are taken from the CF patient registries in each region. Mutations occurring in >1% of patients are included for all regions except Canada, whose registry lists only the 5 most common mutations, all of which occur on one or both alleles in ≥2.6% of patients.

Learn more about the global prevalence of CFTR mutations.

*Based on patient registry data in CFTR2 database, August 13, 2015.1

    References:
  1. US CF Foundation, Johns Hopkins University, The Hospital for Sick Children. The Clinical and Functional TRanslation of CFTR (CFTR2). http://www.cftr2.org. Accessed June 7, 2016.
  2. Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45(10):1160-1167.
  3. Amos J, Feldman GL, Grody WW, et al; American College of Medical Genetics Laboratory Quality Assurance Committee. Standards and Guidelines for Clinical Genetics Laboratories. 2008 ed. http://www.acmg.net. Revised March 2011.
  4. Cystic Fibrosis Foundation. Cystic Fibrosis Foundation Patient Registry 2014 Annual Data Report. Bethesda, MD. © 2015 Cystic Fibrosis Foundation.
  5. Cystic Fibrosis Australia. Cystic Fibrosis in Australia 2013: 16th Annual Report Australian Cystic Fibrosis Data Registry. Baulkham Hills, Australia: Cystic Fibrosis Australia; 2015.
  6. Cystic Fibrosis Canada. Canadian Cystic Fibrosis Registry 2013 Annual Report. Toronto, ON: Cystic Fibrosis Canada; 2015.
  7. European Cystic Fibrosis Society. ECFS Patient Registry 2010 Annual Data Report. 2014.