CFTR2: How will it help care?

Summary 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 regis...

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Bibliographic Details
Published in:Paediatric respiratory reviews 2013-05, Vol.14, p.2-5
Main Author: Castellani, Carlo
Format: Article
Language:English
Subjects:
CFTR
Chlorides - metabolism
Cystic fibrosis
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Diagnosis
DNA Mutational Analysis
Genotype
Genotype/phenotype
Humans
Infant, Newborn
Mutation
Neonatal Screening - methods
Pediatrics
Phenotype
Pilot Projects
Pulmonary/Respiratory
Sweat - metabolism
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Summary:Summary 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.
ISSN:1526-0542
1526-0550
DOI:10.1016/j.prrv.2013.01.006