CFTR2: How will it help care?

Carlo Castellani, Garry Cutting, Patrick Sosnay, Karen Siklosi, Michelle Huckaby Lewis, Chris Penland, Julian Zielenski, Ruslan Dorfman, Mary Corey, Johanna Rommens

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


The Clinical and Functional Translation of CFTR (CFTR2) project presents a novel approach to clinical and functional annotation of mutations identified in disease-causing genes. Phenotype and genotype information on approximately 40,000 cystic fibrosis (CF) patients were collected from registries and large clinics. The disease-liability of the 160 most frequently reported mutations was evaluated by means of a multistage process which involved clinical (sweat chloride average), functional (expression in cell-based systems) and epidemiological (mutation analysis in obligate heterozygotes) steps. The results of this analysis can be consulted in a dedicated website. Data originated by CFTR2 may be valuable in several facets of CF care, including diagnosis, newborn screening, carrier testing, genotype/phenotype correlation and mutation-specific therapeutics.

Original languageEnglish (US)
Pages (from-to)2-5
Number of pages4
JournalPaediatric Respiratory Reviews
Issue numberSUPPL.1
StatePublished - 2013


  • CFTR
  • Cystic fibrosis
  • Diagnosis
  • Genotype/phenotype
  • Mutation

ASJC Scopus subject areas

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


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