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.

Evaluation of the disease liability of CFTR variants.

CASTELLANI, CARLO;
2011

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.
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/utilization; Gene Frequency; Genotype; Models; Phenotype; Polymorphism; Severity of Illness Index; Sex Factors
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/431937
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