Genetics of Cystic Fibrosis Clinical Implications

被引：32

作者：

Egan, Marie E. ^{[1
]}

机构：

[1] Yale Univ, Dept Pediat, Sch Med, 333 Cedar St,Fitkin 526, New Haven, CT 06520 USA

来源：

CLINICS IN CHEST MEDICINE | 2016年 / 37卷 / 01期

关键词：

Cystic fibrosis transmembrane conductance regulator protein mutation; Potentiator; Corrector; Read through agent; Genetic modifier; DOUBLE-BLIND; IVACAFTOR TREATMENT; CFTR POTENTIATOR; MUTATION; F508DEL-CFTR; EFFICACY; SAFETY; LUMACAFTOR; EXPRESSION; SEQUENCES;

D O I：

10.1016/j.ccm.2015.11.002

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder caused by mutations in the gene that encodes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). Almost 2000 variants in the CFTR gene have been identified. The mutational classes are based on the functional consequences on CFTR. New therapies are being developed to target mutant CFTR and restore CFTR function. Understanding specific CF genotypes is essential for providing state-of-the art care to patients. In addition to the variation in CFTR genotype, there are several modifier genes that contribute to the respiratory phenotype.

引用

页码：9 / +

页数：9

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