A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis

Lucy Costantino, Damiana Rusconi, Laura Claut, Carla Colombo, Francesca Novara, Valentina Paracchini, Luigi Porcaro, Patrizia Capasso, Orsetta Zuffardi, Manuela Seia

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)412-417
Number of pages6
JournalJournal of Cystic Fibrosis
Volume10
Issue number6
DOIs
Publication statusPublished - Dec 2011

Keywords

  • Array-CGH
  • CFTR
  • Duplication
  • MRNA

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health

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