ABCMdb

PMID: 12070264

Dugueperoux I, Bellis G, Ferec C, Gillet D, Scotet V, De Braekeleer M
Relationship between genotype and phenotype for the CFTR gene W846X mutation.
J Med Genet. 2002 Jun;39(6):E32., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC7 p.Trp846* ONLINE MUTATION REPORT Relationship between genotype and phenotype for the CFTR gene W846X mutation I Duguépéroux, G Bellis, C Férec, D Gillet, V Scotet, M de Braekeleer, and the participating centres of the French CF registry . Login to comment 127 ABCC7 p.Gly551Asp 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: ∆F508 81.2%, 1078delT 4.9%, G551D 4.1%, 1717-1G→A 1.1%, and W846X2 1.1%. Login to comment 131 ABCC7 p.Trp846* We extracted from the French CF Registry all the patients who attended a participating care centre at least once during 1999 and for whom the genotype was composed of the W846X and ∆F508 mutations. Login to comment 137 ABCC7 p.Trp846* Analyses were performed using Epi Info 6.04 FR. Table 1 shows the phenotypic characteristics of the 10 CF patients compound heterozygous for the W846X and ∆F508 mutations and the 10 ∆F508 homozygous patients. Login to comment 138 ABCC7 p.Trp846* No significant difference was found for the mean ages at the time of diagnosis despite wide variation owing to two late diagnoses in the W846X/∆F508 group: a male was diagnosed at 29 years old and a female at 27.4 years old. Login to comment 140 ABCC7 p.Trp846* More ∆F508 homozygotes than W846X/∆F508 patients were colonised with Pseudomonas aeruginosa, the difference being borderline significant (p=0.057). Login to comment 141 ABCC7 p.Trp846* The mean FEV1 and FCV values were much higher among the W846X/∆F508 patients (73.5 and 80.9% of the predicted values) than among the ∆F508/∆F508 patients (53.9 and 68.9%); however, the differences were not significant. Login to comment 148 ABCC7 p.Trp846* The better anthropometric and lung function results combined with a higher probability of reaching adulthood lead us to conclude that, although the W846X mutation should be considered a severe allele, it is associated with less severe pulmonary manifestation and probably a better prognosis of the disease. Login to comment