Cystic Fibrosis mutations

The gene which is responsible for Cystic Fibrosis was identified in 1989 and is called “cystic fibrosis transmembrane regulator” (CFTR). Today, they have been detected more than 1600 defects (mutations) in the genetic material of patients with cystic fibrosis. The majority of them are considered pathological, while frequency is depending on geographic and demographic factors.

DF508 is the most common gene mutation in Greece with a frequency of 53.4% and is considered the heaviest in symptomatology mutations.

The next most frequent mutations in Greece, covering 71.1% of the Greek population, are:

  • 621+1G>T (5,7%)
  • G542X (3,9%)
  • N1303K (2,6%)
  • 2789+5G>A (1,7%)
  • 2183AA>G (1,4%)
  • E822X (1,4%)
  • R1158X (1%)

The rest have incidence less than 1%.

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