Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population

dc.creatorMartins, Raisa da Silva
dc.creatorCampos Junior, Mario
dc.creatorMoreira, Aline dos Santos
dc.creatorZembrzuski, Verônica Marques
dc.creatorFonseca, Ana Carolina Proença da
dc.creatorAbreu, Gabriella de Medeiros
dc.creatorCabello, Pedro Hernan
dc.creatorCabello, Giselda Maria Kalil de
dc.date2019-09-03T16:53:05Z
dc.date2019-09-03T16:53:05Z
dc.date2019
dc.date.accessioned2023-09-27T00:14:01Z
dc.date.available2023-09-27T00:14:01Z
dc.identifierMARTINS, Raisa da Silva et al. Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population. Molecular Genetics and Genomic Medicine, v. 7, n. 7, p. 1-7, 2019.
dc.identifier2324-9269
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/35320
dc.identifier10.1002/mgg3.645
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8898782
dc.descriptionCystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). There are over 2000 different pathogenic and non-pathogenic variants described in association with a broad clinical heterogeneity. The most common types of mutations in this gene are single nucleotide substitutions or small deletions and insertions. However, large rearrangements, such as large duplications or deletions, are also a possible cause of CF; these variations are rarely tested in routine screenings, and much of them remain unidentified in some populations, especially those with high ethnic heterogeneity. Methods: The present study utilized the Multiplex Ligation‐dependent Probe Amplification (MLPA) technique for the detection of duplications and deletions in 165 CF patients from the Rio de Janeiro State (Brazil), which after extensive mutational screening, still exhibited one or two unidentified CF alleles. Results: Five patients with alterations in MLPA signals were detected. After validation, we identified three copy number variations, one large duplication (CFTRdup2‐3) and two large deletions (CFTRdel25‐26 and CFTRdel25‐27‐CTTNBP2). Two detected deletions were not validated. They were false positives caused by a small deletion of 18 base pairs (232del18) and a point mutation (S168L) in the probe binding site. Conclusion: Our results highlight the importance of screening for large rearrangements in CF cases with no or only one CFTR mutation defined.
dc.formatapplication/pdf
dc.languageeng
dc.publisherWiley Open Access
dc.rightsopen access
dc.subjectFibrose cística
dc.subjectMutação
dc.subjectCFTR
dc.subjectCNV
dc.subjectCystic Fibrosis
dc.subjectMLPA
dc.subjectMutation
dc.titleIdentification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
dc.typeArticle


Este ítem pertenece a la siguiente institución