Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.
Different mutations in the cystic fibrosis (CF) gene appear to contribute to heterogeneity of the CF phenotype. We investigated 15 patients with CF who have the 3849 + 10 kb C-->T mutation. All were Ashkenazi Jews. Their clinical features were compared with those of CF patients with the delta F508/delta F508, W1282X/W1282X, W1282X/delta F508 mutations, which are known to be associated with a severe disease. Patients with the 3849 + 10 kb mutation were older, had been diagnosed as having CF at a more advanced age, and were in a better nutritional state. Sweat chloride values were normal (below 60 mmol/L) in 5 3849 + 10 kb patients (33%). 4 of these patients and 6 others (total 66%) had normal pancreatic function. However, age-adjusted pulmonary function did not differ between the two groups. None of the patients with 3849 + 10 kb C-->T had had meconium ileus or had liver disease or diabetes mellitus. We conclude that this mutation is associated with a mild type of CF.
Augarten
A
A
Department of Paediatrics, Sheba Medical Centre, Ramat Gan, Israel.
Kerem
B S
BS
Yahav
Y
Y
Noiman
S
S
Rivlin
Y
Y
Tal
A
A
Blau
H
H
Ben-Tur
L
L
Szeinberg
A
A
Kerem
E
E
D000367:Age Factors; D002648:Child; D002712:Chlorides / Q000032:analysis*; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D013542:Sweat / Q000737:chemistry*
D002712:Chlorides