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Relationship between genotype and phenotype for the CFTR gene W846X mutation
  1. I Duguépéroux1,2,
  2. G Bellis3,
  3. C Férec2,4,
  4. D Gillet1,
  5. V Scotet2,
  6. M De Braekeleer1,3,4,
  7. the participating centres of the French CF registry
  1. 1Service de Cytogénétique, Cytologie et Biologie de la Reproduction, Université de Bretagne Occidentale - CHU Morvan, Brest, France
  2. 2Service de Génétique Moléculaire et d'Histocompatibilité, Université de Bretagne Occidentale - CHU Morvan, Brest, France
  3. 3Institut National d'Etudes Démographiques, Paris, France
  4. 4INSERM-EMI015, Brest, France
  1. Correspondence to:
 Professor M de Braekeleer, Laboratoire de Cytogénétique, Faculté de Médecine, Université de Bretagne Occidentale, 22 avenue Camille Desmoulins, F-29285 Brest Cedex, France;

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Cystic fibrosis (CF) is the most common inherited disorder in white populations. It occurs in approximately 1/2500 live births and is characterised by chronic and progressive obstructive lung disease, pancreatic insufficiency, and high sweat electrolyte levels. Western Brittany has one of the highest rates of CF in the world.1,2 Over 98% of the CF mutations in the Celtic population of Brittany have been identified.3,4 In this population, only five mutations account for 92.4% of the chromosomes: ΔF508 81.2%, 1078delT 4.9%, G551D 4.1%, 1717-1G→A 1.1%, and W846X2 1.1%.

Most of the genotyping laboratories do not distinguish W846X15 and W846X26 mutations, which are located in the second transmembrane domain (exon 14a) and involve the substitution of a tryptophan for a stop codon. W846X2 is the result of the change of a G to an A nucleotide at position 2670.

Because of its high …

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