Cystic fibrosis mutations: Report from the French registry

Data from 2,666 patients with cystic fibrosis (CF) born in France, submitte d during the period of 1992-1996 to the French registry for CF, were used t o describe the different mutations, their frequency and their regional dist ribution. A total of 5,332 CF chromosomes have been analyzed, demonstrating 229 different mutations and accounting for 87% of CF genes in the French p opulation. Delta F508 is the most common mutation at 67.9% of CF mutations, followed by G542X (2.5%), N1303K (2.0%), 1717-1G-->A (1,2%), R553X (0.8%) and G551D (0.7%). The data show a clear geographical variation in the distr ibution of many of the mutations. Given the geographical heterogeneity of t hese mutations, carrier screening does not appear to be feasible in most Fr ench regions. Copyright (C) 1999 S. Karger AG, Basel.