title: Evaluation of the disease liability of CFTR variants.
abstract: 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.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. psosnay@jhmi.edu
authors.forename: Patrick R
authors.initials: PR
authors.lastname: Sosnay
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.forename: Mary
authors.initials: M
authors.lastname: Corey
authors.forename: Ruslan
authors.initials: R
authors.lastname: Dorfman
authors.forename: Julian
authors.initials: J
authors.lastname: Zielenski
authors.forename: Rachel
authors.initials: R
authors.lastname: Karchin
authors.forename: Christopher M
authors.initials: CM
authors.lastname: Penland
authors.forename: Garry R
authors.initials: GR
authors.lastname: Cutting
mesh_terms: D000465:Algorithms; D019295:Computational Biology / Q000379:methods; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics* / Q000378:metabolism; D030541:Databases, Genetic / Q000706:statistics & numerical data; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008564:Membrane Potentials; D008957:Models, Genetic; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D020871:RNA Stability; D012720:Severity of Illness Index; D012737:Sex Factors
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator