Assessing the Disease-Liability of Mutations in CFTR

被引：66

作者：

Ferec, Claude ^{[1
,2
]}

Cutting, Garry R. ^{[3
]}

机构：

[1] Univ Bretagne Occidentale, Fac Med & Sci Sante, F-29269 Brest, France

[2] INSERM, Brest U1078, F-75654 Paris 13, France

[3] Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Sch Med, Baltimore, MD 21204 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2012年 / 2卷 / 12期

基金：

美国国家卫生研究院;

关键词：

TRANSMEMBRANE CONDUCTANCE REGULATOR; CYSTIC-FIBROSIS PATIENTS; CONGENITAL BILATERAL ABSENCE; REPRODUCTIVE-TRACT ABNORMALITIES; CATIONIC TRYPSINOGEN GENE; MESSENGER-RNA; VAS-DEFERENS; NONSENSE MUTATIONS; HEREDITARY PANCREATITIS; PARTIAL PENETRANCE;

D O I：

10.1101/cshperspect.a009480

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Over 1900 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR), the gene defective in patients with cystic fibrosis. These mutations have been discovered primarily in individuals who have features consistent with the diagnosis of CF. In some cases, it has been recognized that the mutations are not causative of cystic fibrosis but are responsible for disorders with features similar to CF, and these conditions have been termed CFTR-related disorders or CFTR-RD. There are also mutations in CFTR that do not contribute to any known disease state. Distinguishing CFTR mutations according to their penetrance for an abnormal phenotype is important for clinical management, structure/function analysis of CFTR, and understanding the molecular and cellular mechanisms underlying CF.

引用

页数：13

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