Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

Audrézet, M.‐P.; Munck, À.; Scotet, Virginie; Claustres, Mireille; Roussey, M.; Delmas, Dominique; Férec, Claude; Desgeorges, Marie

doi:10.1038/gim.2014.113

Cited by 40 publications

(26 citation statements)

References 33 publications

(36 reference statements)

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“…Depending on the algorithm used, these programs indeed do detect more patients with a milder disease phenotype. 28,29 The current study has some limitations. "Treatment Burden Index" is only a theoretical estimate, and suggests that the burden is on average two thirds of that of patients with class I/II/III mutations.…”

Section: Discussionmentioning

confidence: 91%

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Treatment burden in patients with at least one class IV or V CFTR mutation

et al. 2015

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CFTR mutations are grouped according to disease-causing mechanism. Several studies demonstrated that patients having at least one mutation of class IV/V, present with a milder phenotype, but little is known about their relative treatment burden. We compared treatment burden between patients with two class I, II, or III mutations and patients with at least one mutation of class IV/V in the 2010 database of the Belgian CF Registry. We calculated a "Treatment Burden Index" (TBI) by assigning long term therapies to categories low, medium and high intensity, for differential weighing in the total score. There were 779 patients with two known class I/II/III mutations and 94 patients with at least one class IV/V mutation. Compared to class I/II/III, class IV/V patients had a lower median number of clinic visits (4 vs. 5; P < 0.001), a lower risk of hospitalization (24.7% vs. 50.8%; P < 0.001) and intravenous antibiotic treatment (23.5% vs. 46.0%; P < 0.001) and a lower median TBI (6 vs. 9; P < 0.001). These differences remained significant when only class IV/V patients with pancreatic insufficiency (n = 31) were considered. This study clearly demonstrates the significantly lower treatment burden in patients with CF and at least one class IV/V mutation compared to patients with two class I/II/III mutations and contributes to providing better individual counseling at time of diagnosis.

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Section: Discussionmentioning

confidence: 91%

“…This is especially relevant for evaluation of the success of patient groups with diagnosis after newborn screening. Depending on the algorithm used, these programs indeed do detect more patients with a milder disease phenotype …”

Section: Discussionmentioning

confidence: 99%

Treatment burden in patients with at least one class IV or V CFTR mutation

et al. 2015

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“…We conducted an observational retrospective study in the district of Finistère, an area of 900,000 inhabitants in western Brittany (France) where the incidence of CF is high (~1/2500 live births) [19,20]. The high mutation detection rate obtained in that population shortly after the discovery of the CFTR gene [21] has enabled clinicians to offer early an efficient and efficacious testing process to identify carriers in CF families.…”

Section: Study Design and Settingmentioning

confidence: 99%

Highlighting the impact of cascade carrier testing in cystic fibrosis families

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L’Hostis

Audrézet

et al. 2016

Journal of Cystic Fibrosis

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“…The molecular pathology is remarkably well known, as compared with other genetic diseases. By studying the entire coding regions to search for single nucleotide variants and large rearrangements, the diagnostic sensitivity is high and has reached more than 99% of CF alleles in a French cohort of CF newborns (Audrézet et al, ). More than 2000 sequence variations of variable clinical impact have been reported so far in the CF Mutation Database (http://www.genet.sickkids.on.ca/app), with nearly half of them being missense, and new variants are steadily reported.…”

Section: Introductionmentioning

confidence: 99%