title: Cystic fibrosis mutations: report from the French Registry. The Clinical Centers of the CF.
abstract: Data from 2,666 patients with cystic fibrosis (CF) born in France, submitted during the period of 1992-1996 to the French registry for CF, were used to describe the different mutations, their frequency and their regional distribution. A total of 5,332 CF chromosomes have been analyzed, demonstrating 229 different mutations and accounting for 87% of CF genes in the French population. DeltaF508 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 distribution of many of the mutations. Given the geographical heterogeneity of these mutations, carrier screening does not appear to be feasible in most French regions.
authors.affiliation: Unité de Recherches d'Epidémiologie Génétique, INSERM U155, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Guilloud-Bataille
authors.forename: D
authors.initials: D
authors.lastname: De Crozes
authors.forename: G
authors.initials: G
authors.lastname: Rault
authors.forename: A
authors.initials: A
authors.lastname: Degioanni
authors.forename: J
authors.initials: J
authors.lastname: Feingold
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D009154:Mutation; D012042:Registries