Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene

Abstract : In European populations, large rearrangements contribute to approximately 2% of CF mutations. Here, we reported a novel duplication, the CFTRdup2, identified in a patient heterozygous for Phe508del and suffering from a mild CF. Using a combination of functional tests, we studied the impact of duplication/deletion on CFTR expression. We showed that the copy number variations of exon 2, in addition to abolishing the rate of the mature CFTR protein, affect the CFTR mRNA levels. These data illustrate the importance to perform functional analysis to better understand the molecular basis responsible for cystic fibrosis. Determining the impact of deletions or duplications is relevant for a more comprehensive diagnosis and prognosis of patients.
Liste complète des métadonnées

https://hal.umontpellier.fr/hal-02444117
Contributeur : Karine Deletang <>
Soumis le : vendredi 17 janvier 2020 - 15:57:45
Dernière modification le : vendredi 15 mai 2020 - 12:22:08

Identifiants

Collections

Citation

Magali Taulan, Victoria Viart, Corinne Thèze, Caroline Guittard, Jean-Pierre Altieri, et al.. Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene. Gene, Elsevier, 2012, 500 (2), pp.194-198. ⟨10.1016/j.gene.2012.03.043⟩. ⟨hal-02444117⟩

Partager

Métriques

Consultations de la notice

145