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About CF » CFTR mutations » Overview of common CFTR mutations

Overview of common CFTR mutations

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In spite of the fact that over 1900 CFTR mutations have been described so far, fewer than 20 mutations occur at a frequency greater than 0.1%,1 and only five mutations at a frequency more than 1%. The most common of these is mutation F508del (or ΔF508), which accounts for approximately 70% of CFTR genes in patients with CF worldwide.2

The most common CFTR mutations are:3, 4, 5


What do you think?

Why do you think that the carrier frequency of CF alleles is so high in Caucasian populations?

A: Due to specific patterns of ethnic migration throughout Europe in the middle ages.

B: It is thought that carrier mutations may confer resistance to infectious disease.

C: Currently, there is no theory that explains this phenomenon.

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  2. Castellani C et al. J Cyst Fibros 2008;7:179–96
  4. MacDonald KD et al. Drugs 2007;9:1–10
  5. Watson MS et al. Genet Med 2004;6:387–91