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

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

School of Medicine

Research output: Contribution to journal › Review article › peer-review

27 Scopus citations

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 language	English (US)
Pages (from-to)	585-598
Number of pages	14
Journal	Pediatric clinics of North America
Volume	63
Issue number	4
DOIs	https://doi.org/10.1016/j.pcl.2016.04.002
State	Published - Aug 1 2016

Keywords

CFTR mutations
Cystic fibrosis
Genotype/phenotype correlations

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/j.pcl.2016.04.002

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title = "Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype",

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.",

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AU - Raraigh, Karen S.

AU - Gibson, Ronald L.

PY - 2016/8/1

Y1 - 2016/8/1

N2 - 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.

AB - 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.

KW - CFTR mutations

KW - Cystic fibrosis

KW - Genotype/phenotype correlations

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

Abstract

Keywords

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