CFTR2: How will it help care?

被引：58

作者：

Castellani, Carlo ^{[1
]}

机构：

[1] Azienda Osped Univ Integrata, Cyst Fibrosis Ctr, I-37126 Verona, Italy

来源：

PAEDIATRIC RESPIRATORY REVIEWS | 2013年 / 14卷

关键词：

Cystic fibrosis; CFTR; Mutation; Genotype/phenotype; Diagnosis; CYSTIC-FIBROSIS; PRACTICE GUIDELINES; DIAGNOSIS; INFANTS;

D O I：

10.1016/j.prrv.2013.01.006

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. (C) 2013 Elsevier Ltd. All rights reserved.

引用

页码：2 / 5

页数：4

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