Journal
GENE
Volume 500, Issue 2, Pages 194-198Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2012.03.043
Keywords
Cystic fibrosis; CFTR gene; Large rearrangements; Functional analysis; mRNA and protein expression
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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 MR 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. (C) 2012 Elsevier B.V. All rights reserved.
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