[The ΔF508 mutation in cystic fibrosis patients]

Cystic fibrosis is a serious autosomal recessive disorder. It is commonest among the white Caucasian populations in North and Western Europe. However, no information is available on this disease in Iceland. Only 21 patients have been diagnosed with this condition in Iceland since 1958, hence the prevalence is estimated to be around 1/7000. Three young children, aged 6-30 months, with clinical symptoms suggestive of cystic fibrosis: namely recurrent respiratory infections, malabsorption of fat, low trypsin and chymotrypsin activity and positive sweat test, were investigated. Mutational analysis revealed that all three children were homozygous for the AF508 mutation in the cystic fibrosis gene. This is the first report of cystic fibrosis in Iceland. It is expected that 2-3% of the population are carriers of cystic fibrosis. Identification of all disease-causing mutations in the population should be feasible and encouraged.