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Related Experiment Videos

The phenotypic consequences of CFTR mutations.

Rebecca K Rowntree1, Ann Harris

  • 1Paediatric Molecular Genetics, Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital, Oxford, OX3 9DS, UK.

Annals of Human Genetics
|August 28, 2003
PubMed
Summary

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. This review classifies CFTR mutations and discusses their varying effects on CF disease phenotypes, particularly in the lungs.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Science

Background:

  • Cystic fibrosis (CF) is a prevalent autosomal recessive disorder affecting multiple organs.
  • Over 1000 mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene are linked to CF.
  • The genotype-phenotype correlation in CF, especially for pulmonary disease, remains incompletely understood.

Purpose of the Study:

  • To review the current classification of CFTR mutation classes.
  • To describe the resulting CF disease phenotypes.
  • To discuss complex alleles, modifier genes, and CFTR-related disorders.

Main Methods:

  • Literature review of studies on CFTR genotype and phenotype.
  • Analysis of CFTR mutation classifications.

Related Experiment Videos

  • Discussion of genetic modifiers and alternative CFTR-related conditions.

    • Main Results:

    • CFTR mutations lead to diverse CF disease phenotypes.
    • Pancreatic involvement shows a clearer genotype-phenotype link compared to pulmonary manifestations.
    • Pulmonary disease variability exists even among individuals with identical CFTR genotypes.

    Conclusions:

    • Understanding CFTR mutation classes is crucial for predicting CF disease phenotypes.
    • Genetic modifiers and complex alleles contribute to phenotypic variability.
    • CFTR mutations may also underlie other conditions like bronchiectasis and pancreatitis.