Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene |
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| Authors: | Magali Taulan Victoria Viart Corinne Theze Caroline Guittard Jean-Pierre Altieri Carine Templin Laurent Mely Mireille Claustres Marie des Georges |
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| Institution: | 1. Université Montpellier1, UFR de Médecine, Montpellier, France;2. INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier, France;3. CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000, France;4. Centre de Ressources et Compétences pour la Mucoviscidose, Hôpital Renée Sabran, Giens, France |
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| 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. |
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| Keywords: | CF cystic fibrosis CFTR cystic fibrosis transmembrane conductance regulator NBD nucleotide-binding domain SQF-PCR semiquantitative fluorescent PCR qPCR quantitative PCR ER endoplasmic reticulum WT wild-type |
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