Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype

Patrick R Sosnay; Karen S Raraigh; Ronald L Gibson

doi:10.1016/j.pcl.2016.04.002

Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype

Pediatr Clin North Am. 2016 Aug;63(4):585-98. doi: 10.1016/j.pcl.2016.04.002.

Authors

Patrick R Sosnay¹, Karen S Raraigh², Ronald L Gibson³

Affiliations

¹ Division of Pulmonary & Critical Care Medicine, Department of Medicine, Johns Hopkins University, 1830 E. Monument Street, Baltimore, MD 21205, USA. Electronic address: psosnay@jhmi.edu.
² McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N. Broadway, Baltimore, MD 21205, USA.
³ Division of Pulmonary and Sleep Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, 4800 Sand Point Way, Seattle, WA 98105, USA.

PMID: 27469177
DOI: 10.1016/j.pcl.2016.04.002

Abstract

The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene encodes an epithelial ion channel. Although one mutation remains the most common cause of CF (F508del), there have been more than 2000 reported variations in CFTR. For the most part, individuals who carry only one mutation (heterozygotes) have no symptoms; individuals who inherit deleterious mutations from both parents have CF. However, growing awareness of CFTR mutations that do not ever or do not always cause CF, and individuals with mild or single-organ system manifestations of CFTR-related disease have made this Mendelian relationship more complex.

Keywords: CFTR mutations; Cystic fibrosis; Genotype/phenotype correlations.

Publication types

Review

MeSH terms

Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Genotype
Humans
Molecular Biology
Mutation
Phenotype

Substances

Cystic Fibrosis Transmembrane Conductance Regulator