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Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease expression. The genotype-phenotype correlation for the 3905insT mutation in comparison to deltaF508 was studied here. Thirty CF patients compound heterozygous for 3905insT were compared to clinical presentation of matched patients homozygous for deltaF508 (1960-1997). Sweat tests, age at diagnosis, at death and at onset of Pseudomonas aeruginosa colonization were analysed. Chrispin-Norman scores and pulmonary function forced expiratory volume in one second (FEV1) determined severity of lung disease. Twenty-five of the patients with 3905insT had deltaF508 as a second mutation and five had another rare mutation. At the age of 15 yrs, 60% of patients with 3905insT had an FEV1 &lt; 60% predicted in comparison to 25% of patients with deltaF508 (p&lt;0.05). Age at death and cumulative survival rate was significantly lower (p&lt;0.05) in the 3905insT than in the deltaF508 group (20.3 and 24.0 yrs, respectively). Age at onset of P. aeruginosa colonization was not different in the study groups. Sweat chloride concentrations were lower in patients homozygous for deltaF508 (105.63+/-15.3 mmol L(-1)) than in patients with 3905insT (119.9+/-22.1 mmol x L(-1)) (p&lt;0.05). Patients compound heterozygous for 3905insT have similar high morbidity and mortality to patients homozygous for deltaF508.

High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and ΔF508