Evaluation of the disease liability of CFTR variants

Methods Mol Biol. 2011;742:355-72. doi: 10.1007/978-1-61779-120-8_21.


Over 1600 novel sequence variants in the CFTR gene have been reported to the CF Mutation Database (http://www.genet.sickkids.on.ca/cftr/Home.html). While about 25 mutations are well characterized by clinical studies and functional assays, the disease liability of most of the remaining mutations is either unclear or unknown. This gap in knowledge has implications for diagnosis, therapy selection, and counseling for patients and families carrying an uncharacterized CFTR mutation. This chapter will describe a critical approach to assessing the disease implications of CFTR mutations utilizing clinical data, literature review, functional testing, and bioinformatic in silico methods.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Computational Biology / methods
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / metabolism
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • Databases, Genetic / statistics & numerical data
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genotype
  • Homozygote
  • Humans
  • Male
  • Membrane Potentials
  • Models, Genetic
  • Mutation*
  • Phenotype
  • Polymorphism, Genetic*
  • RNA Stability
  • Severity of Illness Index
  • Sex Factors


  • Cystic Fibrosis Transmembrane Conductance Regulator