2015
DOI: 10.1016/j.jcf.2015.02.012
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Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Abstract: DB should not be considered a classical autosomal recessive CFTR-RD. Moreover, although further investigations are necessary, we proposed a new class of "Non-Neutral Variants" whose impact on lung disease requires more studies.

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Cited by 22 publications
(22 citation statements)
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“…There is evidence that bronchiectasis may represent a spectrum of CFTR-related disorders as there are increased frequencies of CFTR mutations in patients in various studies [37]. In addition to the associations of CFTR mutant alleles in bronchiectasis, CFTR functional defects have been discovered in patients harboring no-CFTR mutant alleles using sweat chloride and nasal potential difference measurements [38].…”
Section: Acquired Cftr Dysfunction In Asthma and Non-cf Bronchiectasimentioning
confidence: 99%
“…There is evidence that bronchiectasis may represent a spectrum of CFTR-related disorders as there are increased frequencies of CFTR mutations in patients in various studies [37]. In addition to the associations of CFTR mutant alleles in bronchiectasis, CFTR functional defects have been discovered in patients harboring no-CFTR mutant alleles using sweat chloride and nasal potential difference measurements [38].…”
Section: Acquired Cftr Dysfunction In Asthma and Non-cf Bronchiectasimentioning
confidence: 99%
“…Interestingly, four variants (c.454A>G, c.523A>G, c.1727G>C, and c.3700A>G) formerly classified as missense variants, that have recently been reclassified as splicing variants based on experimental results (Bergougnoux et al, ; Ramalho et al, ; Raynal et al, and unpublished personal data) were correctly predicted as not affecting the sequence and the 3D structure of the CFTR protein by CYSMA and SIFT, which was not always the case with Polyphen‐2. Conversely, the variant c.2706C>G (S902R), previously reported to cause the total loss of 203 base pairs of exon 15 (Raynal et al, ) has been predicted as deleterious by CYSMA.…”
Section: Discussion and Perspectivesmentioning
confidence: 99%
“…Interestingly, the variants c.454A>G, c.523A>G, c.1727G>C, and c.3700A>G (legacy names M152V, I175V, G576A, and I1234V, respectively) were counted among these false‐negatives due to negative predictions despite their classification as disease‐causing (three CF‐causing, one CFTR ‐RD). Indeed, in vitro functional studies recently published or performed in our own laboratory (Bergougnoux et al, ; Ramalho et al, ; Raynal et al, and unpublished data) allowed to reclassify these four variants as splicing variants. Thus, considering these data, CYSMA sensitivity and specificity increased to reach 92 and 88%, respectively (Figure S1).…”
Section: Software Operation and Output Datamentioning
confidence: 99%
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“…The implication of CFTR in diffuse bronchiectasis or nasal polyposis is more controversial [34]; variants in other genes were previously reported as possibly causative. However, the identification of mutations in other genes with sufficient significance remains difficult and needs large patient cohorts.…”
Section: Other Locimentioning
confidence: 99%