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

Author:
Taulan, Magali, Viart, Victoria, Theze, Corinne, Guittard, Caroline, Altieri, Jean-Pierre, Templin, Carine, Mely, Laurent, Claustres, Mireille, des Georges, Marie
Source:
Gene 2012 v.500 no.2 pp. 194-198
ISSN:
0378-1119
Subject:
cystic fibrosis, exons, genes, heterozygosity, messenger RNA, mutation, patients, prognosis
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.
Agid:
989643