'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations Public Deposited

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Creator
  • Noone, Peadar G
    • Affiliation: School of Medicine, Cystic Fibrosis and Pulmonary Diseases Research and Treatment Center
  • Knowles, Michael
    • Affiliation: School of Medicine, Cystic Fibrosis and Pulmonary Diseases Research and Treatment Center
Abstract
  • Abstract Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into genotype/phenotype relations have recently been gained in this disorder. The strongest relationship exists between 'severe' mutations in the gene that encodes the cystic fibrosis transmembrane regulator (CFTR) and pancreatic insufficiency. The relationship between 'mild' mutations, associated with residual CFTR function, and expression of disease is less precise. Atypical 'mild' mutations in the CFTR gene have been linked to late-onset pulmonary disease, congenital bilateral absence of the vas deferens, and idiopathic pancreatitis. Less commonly, sinusitis, allergic bronchopulmonary aspergillosis, and possibly even asthma may also be associated with mutations in the CFTR gene, but those syndromes predominantly reflect non-CFTR gene modifiers and environmental influences.
Date of publication
Identifier
  • doi:10.1186/rr82
  • 11737931
Resource type
  • Article
Rights statement
  • In Copyright
Rights holder
  • Peadar G Noone et al.; licensee BioMed Central Ltd.
Journal title
  • Respiratory Research
Journal volume
  • 2
Journal issue
  • 6
Page start
  • 328
Page end
  • 332
Language
  • English
Is the article or chapter peer-reviewed?
  • Yes
ISSN
  • 1465-9921
Bibliographic citation
  • Respiratory Research. 2001 Aug 09;2(6):328-332
Access
  • Open Access
Publisher
  • BioMed Central Ltd
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