Document Detail

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.
MedLine Citation:
PMID:  22484595     Owner:  NLM     Status:  Publisher    
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.
Magali Taulan; Victoria Viart; Corinne Theze; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Laurent Mely; Mireille Claustres; Marie des Georges
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-29
Journal Detail:
Title:  Gene     Volume:  -     ISSN:  1879-0038     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-4-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7706761     Medline TA:  Gene     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier B.V. All rights reserved.
Université Montpellier1, UFR de Médecine, Montpellier, France; INSERM U827, Laboratoire de Génétique de Maladies Rares, Montpellier, France.
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