L206W MUTATION OF THE CYSTIC-FIBROSIS GENE, RELATIVELY FREQUENT IN FRENCH-CANADIANS, IS ASSOCIATED WITH ATYPICAL PRESENTATIONS OF CYSTIC-FIBROSIS

Cystic fibrosis is caused by mutations in the cystic fibrosis transmem brane conductance regulator (CFTR) gene. Over 400 mutations have been reported at this locus. Although severe forms of cystic fibrosis are u sually associated with pancreatic insufficiency, pulmonary dysfunction , and elevated sweat chloride, there is a wide range of phenotypes, in cluding congenital absence of the vas deferens, observed with some of the milder mutations. The L206W mutation, which was first identified i n patients from South France, is relatively frequent in French Canadia ns from Quebec. In this report, we document the atypical form of cysti c fibrosis associated with this mutation, in a cohort of 7 French Cana dian probands. (C) 1995 Wiley-Liss, Inc.