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Spectrum of CFTR gene sequence variants in a northern Portugal population

2018Journal article Open access
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dc.contributor.authorGrangeia, A.
dc.contributor.authorAlves, S.
dc.contributor.authorGonçalves, L
dc.contributor.authorGregório, I
dc.contributor.authorSantos, AC
dc.contributor.authorBarros, H
dc.contributor.authorBarros, A
dc.contributor.authorCarvalho, F
dc.contributor.authorMoura, C
dc.date.accessioned2018-11-29T01:06:59Z
dc.date.available2018-11-29T01:06:59Z
dc.date.issued2018
dc.description.abstractIn Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported as cystic fibrosis (CF) or CFTR related disorders variants, were detected. Ninety-two children (18.0%; 95%CI: 14.7-21.6) were found to be carriers of one sequence variant and 8 (1.6%; 95%CI: 0.7-3.1) had two sequence variants. Taking into consideration only variants that may cause CF when combined with a pathogenic CF variant, the CF pathogenic variant carrier frequency was 3.3% (95%CI: 1.9-5.3). One (0.2%; 95%CI: 0.01-0.7) child presented two CF pathogenic variants. CONCLUSIONS: The majority of CFTR variants detected have been associated with a less severe CF phenotype. A wide spectrum of CFTR variants was identified, confirming the highest CFTR allelic heterogeneity previously reported in Mediterranean country. Additionally, better knowledge about the CFTR sequence variation spectrum may contribute to more efficient genetic testing in the Portuguese population.pt_PT
dc.description.sponsorshipFCT; FEDER
dc.description.sponsorshipPrograma Operacional de Saude - Saude XXI
dc.description.sponsorshipCalouste Gulbenkian Foundation
dc.description.sponsorshipAdministracao Regional de Saude Norte (Regional Department of Ministry of Health)
dc.description.sponsorshipQuadroComunitario de Apoio III
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPulmonology, vol. 24(1), p. 3-9pt_PT
dc.identifier.doi10.1016/j.pulmoe.2017.12.007pt_PT
dc.identifier.issn2531-0437
dc.identifier.urihttp://hdl.handle.net/10400.26/25064
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectCystic Fibrose Transmembrane Conductance Regulatorpt_PT
dc.subjectCystic Fibrosispt_PT
dc.subjectGenome structural variantspt_PT
dc.titleSpectrum of CFTR gene sequence variants in a northern Portugal populationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage9pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage3pt_PT
oaire.citation.titlePulmonologypt_PT
oaire.citation.volume24pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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