Mutations

There are many different types of CFTR gene mutations

 

  • Not everyone with cystic fibrosis (CF) has the same mutations (changes) in their Cystic Fibrosis Transmembrane conductance Regulator (CFTR) genes. We know of over 2,000 different CFTR gene mutations. At least 281 of these cause CF but most are extremely rare.1
  • People with CF can either have two copies of the same CF gene mutation (homozygous), or two different CF gene mutations (heterozygous).2
  • F508del is the most common CFTR gene mutation.3 Approximately 90% of people living with CF in Australia, have at least one copy of the F508del gene mutation.2
  • The next most common mutations, G551D, G542X, N1303K and W1282X, have a much lower prevalence.2

 

Knowing your CF genotype

The type of CFTR gene mutations you have is called your 'genotype', and this is something your doctor or CF care team should know and be able to tell you.4

References

  1. US CF Foundation, Johns Hopkins University, The Hospital for Sick Children. The Clinical and Functional Translation of CFTR (CFTR2). Available at: www.cftr2.org/mutations_history.php.

  2. Cystic Fibrosis Australia. Cystic Fibrosis in Australia 2014: 17th Annual Report from the Australian Cystic Fibrosis Data Registry. August 2016.

  3. 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.

  4. Welsh MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis: membrane transport disorders. In: Valle D, Beaudet A, Vogelstein B et al.eds.The Online Metabolic & Molecular Bases of Inherited Disease.The McGraw-Hill Companies Inc; 2004: part 21, chap 201. Available at: www.ommbid.com.

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