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About CF » CFTR mutations » CFTR epidemiology

CFTR epidemiology

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Click on the image hotspots or use the labelled buttons on the left to find out more.

Cystic fibrosis is a common autosomal recessive disorder found in populations of white Caucasian descent, such as those of Europe, North America and Australasia. This is in stark contrast to the average incidence reported throughout Europe, where 1 in 2000–3000 newborns are affected with CF.1

Click on the map below to find out how common CF is in countries across Europe, and to learn the most prevalent mutations.1

Czech Republic

Incidence:

1 in 2833 births

 

Common mutations:

F508del, CFTRdel2,3, G551D

Denmark

Incidence:

1 in 4700 births

 

Common mutations:

F508del, 394delTT, N1303K

Finland

Incidence:

1 in 25,000 births

 

Common mutations:

F508del, 394delIT, G542X

France

Incidence:

1 in 2350 births

 

Common mutations:

F508del, G542X, 711+1G→T

Germany

Incidence:

1 in 3300 births

 

Common mutations:

F508del, R553X, N1303K, G542X

Greece

Incidence:

1 in 3500 births

 

Common mutations:

F508del, G542X, L346P

Ireland

Incidence:

1 in 1800 births

 

Common mutations:

F508del, G551D, R117H

Italy

Incidence:

1 in 2438 births

 

Common mutations:

F508del, N1303K, R1162X

Netherlands

Incidence:

1 in 3650 births

 

Common mutations:

F508del, A455E, 1717-1G→A

UK and Northern Ireland

Incidence:

1 in 5350 births

 

Common defects:

F508del, G551D, R117H

Russian Federation

Incidence:

1 in 4900 births

 

Common defects:

F508del, CFTRdele2,3, N1303K

Spain

Incidence:

1 in 3500 births

 

Common mutations:

F508del, G542X, 1811+1.6Kb A→G

Sweden

Incidence:

1 in 7300 births

 

Common mutations:

F508del, 394delIT, 3659delC

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References
  1. WHO Report. The molecular genetic epidemiology of cystic fibrosis. 2004