title: Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.
abstract: 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.
authors.affiliation: Department of Paediatrics, Sheba Medical Centre, Ramat Gan, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Augarten
authors.forename: B S
authors.initials: BS
authors.lastname: Kerem
authors.forename: Y
authors.initials: Y
authors.lastname: Yahav
authors.forename: S
authors.initials: S
authors.lastname: Noiman
authors.forename: Y
authors.initials: Y
authors.lastname: Rivlin
authors.forename: A
authors.initials: A
authors.lastname: Tal
authors.forename: H
authors.initials: H
authors.lastname: Blau
authors.forename: L
authors.initials: L
authors.lastname: Ben-Tur
authors.forename: A
authors.initials: A
authors.lastname: Szeinberg
authors.forename: E
authors.initials: E
authors.lastname: Kerem
mesh_terms: 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*
chemical_list: D002712:Chlorides