title: 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.
authors.affiliation: Université Montpellier1, UFR de Médecine, Montpellier, France. magali.taulan@inserm.fr
authors.forename: Magali
authors.initials: M
authors.lastname: Taulan
authors.forename: Victoria
authors.initials: V
authors.lastname: Viart
authors.forename: Corinne
authors.initials: C
authors.lastname: Theze
authors.forename: Caroline
authors.initials: C
authors.lastname: Guittard
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Altieri
authors.forename: Carine
authors.initials: C
authors.lastname: Templin
authors.forename: Laurent
authors.initials: L
authors.lastname: Mely
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Marie
authors.initials: M
authors.lastname: des Georges
mesh_terms: D000818:Animals; D002460:Cell Line; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism*; D056915:DNA Copy Number Variations / Q000235:genetics*; D005091:Exons; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator