There are many different types of CFTR gene mutations
Not everyone with cystic fibrosis (CF) has the same mutations (changes) in their
The five most common CFTR gene mutations are F508del, G542X, G551D, N1303K and W1282X.1
F508del is the most common CFTR gene mutation, it is estimated that over two thirds of all CFTR gene mutations worldwide are F508del.2 The next most common mutations, G542X, G551D, N1303K and W1282X, each have a worldwide prevalence of just 1-3%3
Knowing your CF genotype
People with CF can either have two copies of the same CF mutation, or two different CF mutations.4
Your doctor should be able to tell you which CFTR gene mutations you have, this is called your ‘
*CFTR = Cystic fibrosis transmembrane conductance regulator
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US CF Foundation, Johns Hopkins University, The Hospital for Sick Children. The Clinical and Functional Translation of CFTR (CFTR2). Resources. Available at:
https://cftr2.org/resources. Accessed February 2022.
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Bobadilla JL, et al. Cystic Fibrosis: A Worldwide Analysis of Mutations Correlation With Incidence Data and Application to Screening. Human Mutation. 2002; 19: 575 ̶ 606.
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Derichs N. Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis. European Respiratory Review 2013; 22(127): 58 - 65.
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Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Eng J Med 2011; 365(18): 1663 ̶ 1672.
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Vogelstein B, et al. eds. The Online Metabolic & Molecular Bases of Inherited Disease. The McGraw-Hill Companies Inc; 2004: part 21, chap 201. www.ommbid.com.
