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

Patrick R. Sosnay, Karen S. Raraigh, Ronald L. Gibson

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)585-598
Number of pages14
JournalPediatric clinics of North America
Volume63
Issue number4
DOIs
StatePublished - Aug 1 2016

Keywords

  • CFTR mutations
  • Cystic fibrosis
  • Genotype/phenotype correlations

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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