title: A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis.
abstract: BACKGROUND
  PCR-based diagnostic procedures are not able to characterise 6% of CF alleles. Recently, the application of array-CGH and of CFTR mRNA analysis has allowed the identification of new copy number mutations and splicing defects, that account for 2% and 13% of CF alleles, respectively, in the Italian population.
  
  
  METHODS
  Here, we report the characterisation of a large duplication in CFTR gene through different methods: MLPA assay, RT-PCR and high-resolution array-CGH.
  
  
  RESULTS
  We identified a large duplication, involving exons 6b-16, in a patient heterozygous for F508del mutation. This duplication produces an abnormal transcript with an out of frame addition of 2244 nucleotides and leads to the insertion of 8 amino-acid residues in the protein, followed by a stop codon.
  
  
  CONCLUSIONS
  We propose a wide methodological approach based on MLPA assay, RT-PCR and high-resolution array-CGH to routinely analyse CF patients uncharacterised for one or both CFTR alleles.
authors.affiliation: Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Italy.
authors.forename: Lucy
authors.initials: L
authors.lastname: Costantino
authors.forename: Damiana
authors.initials: D
authors.lastname: Rusconi
authors.forename: Laura
authors.initials: L
authors.lastname: Claut
authors.forename: Carla
authors.initials: C
authors.lastname: Colombo
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Valentina
authors.initials: V
authors.lastname: Paracchini
authors.forename: Luigi
authors.initials: L
authors.lastname: Porcaro
authors.forename: Patrizia
authors.initials: P
authors.lastname: Capasso
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Manuela
authors.initials: M
authors.lastname: Seia
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator