lunes, 18 de marzo de 2013

CFTR2: How will it help care? [Paediatr Respir Rev. 2013] - PubMed - NCBI

2013 Mar 1. pii: S1526-0542(13)00008-0. doi: 10.1016/j.prrv.2013.01.006. [Epub ahead of print]

CFTR2: How will it help care?

Castellani C; on behalf of the CFTR2 team.

Source

Cystic Fibrosis Centre, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. Electronic address: carlo.castellani@ospedaleuniverona.it.

Abstract

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.
Copyright © 2013 Elsevier Ltd. All rights reserved.