Document Detail

Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
MedLine Citation:
PMID:  15151509     Owner:  NLM     Status:  MEDLINE    
While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. The aim of this study was to investigate whether heterozygosity for CFTR mutations could be a determinant risk factor in the development of bronchiectasis in adult patients. We have performed the CFTR gene analysis in a cohort of 55 bronchiectasis adult patients with unknown etiology. The 5T variant (TG)m and the M470V polymorphisms were also analyzed. A general population in which the same molecular analysis was previously performed was used as the control group. The mutational spectrum of patients was also compared with that found in our CF population. CFTR mutations/variants were found in 20 patients (36%), 14 with only one mutant gene (25%). All six patients colonized by Staphylococcus aureus presented with at least one CFTR change (p = 0.001). No statistical significance was observed between patients with and without mutations for other clinical features. The 5T variant was found in four patients. Additionally, 90% of patients with mutations had the more functional M470 allele (p < 0.001). These results suggest the involvement of the CFTR gene in bronchiectasis of unknown etiology in adult patients.
T Casals; J De-Gracia; M Gallego; J Dorca; B Rodríguez-Sanchón; M D Ramos; J Giménez; A Cisteró-Bahima; C Olveira; X Estivill
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  65     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-05-20     Completed Date:  2004-12-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  490-5     Citation Subset:  IM    
Medical and Molecular Genetics Center, Institut Recerca Oncològica (IRO), Hospital Duran i Reynals, Gran Via s/n km 2.7, 09807 Barcelona, Spain.
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MeSH Terms
Bronchiectasis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Mutation / genetics*
Sputum / microbiology
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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