Home LiteratureArticle Details
PMID: 8659542 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.

American journal of human genetics ·Vol. 59 ·No. 1 ·1996-07-00 ·Pages 45-51

Miller PW, Hamosh A, Macek M, Greenberger PA, MacLean J, Walden SM, Slavin RG, Cutting GR

Abstract

The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic fibrosis (CF) patients can occur in some individuals with ABPA. Reports of familial occurrence of ABPA and increased incidence in CF patients suggest a possible genetic basis for the disease. To test this possibility, the entire coding region of the cystic fibrosis transmembrane regulator (CFTR) gene was analyzed in 11 individuals who met strict criteria for the diagnosis of ABPA and had normal sweat electrolytes (< or = 40 mmol/liter). One patient carried two CF mutations (deltaF508/R347H), and five were found to carry one CF mutation (four deltaF508; one R117H). The frequency of the deltaF508 mutation in patients with ABPA was significantly higher than in 53 Caucasian patients with chronic bronchitis (P < .0003) and the general population (P < .003). These results suggest that CFTR plays an etiologic role in a subset of ABPA patients.

MeSH Terms
Adult Aspergillosis, Allergic Bronchopulmonary/etiology,genetics Bronchitis/genetics Chronic Disease Cystic Fibrosis/genetics Cystic Fibrosis Transmembrane Conductance Regulator/genetics Female Genotype Heterozygote Humans Male Middle Aged Mutation Phenotype
Chemicals
CFTR protein, human cystic fibrosis transmembrane conductance regulator delta F508 Cystic Fibrosis Transmembrane Conductance Regulator
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Miller P W
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, USA.
Hamosh A
Macek M
Greenberger P A
MacLean J
Walden S M
Slavin R G
Cutting G R
References (45)
45 references, click to expand
  1. Clinical and immunologic criteria for the diagnosis of allergic bronchopulmonary aspergillosis.
    Ann Intern Med. 1977 Apr;86(4):405-14 PMID: 848802
  2. Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
    Am J Hum Genet. 1992 Jun;50(6):1185-94 PMID: 1376017
  3. Aspergillosis and atopy in cystic fibrosis.
    Am Rev Respir Dis. 1979 Oct;120(4):863-73 PMID: 507513
  4. Low sweat electrolytes in a patient with cystic fibrosis.
    Am J Med. 1980 Oct;69(4):643-6 PMID: 7424954
  5. Allergic bronchopulmonary aspergillosis complicating cystic fibrosis in childhood.
    Arch Dis Child. 1980 May;55(5):348-53 PMID: 7002053
  6. Application of enzyme-linked immunosorbent assay (ELISA) in diagnosis of allergic bronchopulmonary aspergillosis.
    J Lab Clin Med. 1982 Feb;99(2):288-93 PMID: 7038011
  7. Allergic bronchopulmonary aspergillosis in cystic fibrosis.
    J Allergy Clin Immunol. 1984 Jan;73(1 Pt 1):44-8 PMID: 6693666
  8. Autonomic and airway reactivity in obligate heterozygotes for cystic fibrosis.
    Am Rev Respir Dis. 1984 Jun;129(6):911-4 PMID: 6329048
  9. A familial occurrence of allergic bronchopulmonary aspergillosis: a probable environmental source.
    J Allergy Clin Immunol. 1985 Jul;76(1):55-9 PMID: 4008814
  10. Cystic fibrosis in adults: diagnosis and management.
    Clin Chest Med. 1987 Dec;8(4):695-710 PMID: 3322653
  11. Pulmonary abnormalities in obligate heterozygotes for cystic fibrosis.
    Thorax. 1987 Feb;42(2):120-5 PMID: 3433235
  12. Allergic bronchopulmonary aspergillosis and fungoses.
    Clin Chest Med. 1988 Dec;9(4):599-608 PMID: 3069291
  13. Mild cystic fibrosis in a consanguineous family.
    Ann Intern Med. 1989 Apr 15;110(8):599-605 PMID: 2930093
  14. Identification of the cystic fibrosis gene: genetic analysis.
    Science. 1989 Sep 8;245(4922):1073-80 PMID: 2570460
  15. Concomitant allergic Aspergillus sinusitis and allergic bronchopulmonary aspergillosis associated with familial occurrence of allergic bronchopulmonary aspergillosis.
    Ann Allergy. 1990 Jun;64(6):507-12 PMID: 2346236
  16. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
    Nature. 1990 Jul 26;346(6282):366-9 PMID: 1695717
  17. Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
    J Clin Invest. 1992 Sep;90(3):785-90 PMID: 1381723
  18. The spectrum of cystic fibrosis mutations.
    Trends Genet. 1992 Nov;8(11):392-8 PMID: 1279852
  19. Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols.
    Am J Hum Genet. 1993 Mar;52(3):616-26 PMID: 7680526
  20. Sweat chloride and delta F508 mutation in chronic bronchitis or bronchiectasis.
    Lancet. 1993 Oct 16;342(8877):997 PMID: 8105250
  21. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 45-1993. A 23-year-old asthmatic man with pulmonary infiltrates and hilar lymphadenopathy.
    N Engl J Med. 1993 Nov 11;329(20):1484-91 PMID: 8413460
  22. Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.
    Hum Mol Genet. 1993 Oct;2(10):1605-9 PMID: 7505692
  23. A mutation in CFTR produces different phenotypes depending on chromosomal background.
    Nat Genet. 1993 Nov;5(3):274-8 PMID: 7506096
  24. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
    N Engl J Med. 1994 Oct 13;331(15):974-80 PMID: 7521937
  25. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model.
    Science. 1994 Oct 7;266(5182):107-9 PMID: 7524148
  26. Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.
    Hum Genet. 1995 Feb;95(2):226-8 PMID: 7532152
  27. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
    N Engl J Med. 1995 Jun 1;332(22):1475-80 PMID: 7739684
  28. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.
    Am J Hum Genet. 1995 Jun;56(6):1359-66 PMID: 7539210
  29. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis.
    Hum Gene Ther. 1995 Apr;6(4):445-55 PMID: 7542031
  30. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.
    Hum Mol Genet. 1995 Apr;4(4):635-9 PMID: 7543317
  31. CFTR gene variant for patients with congenital absence of vas deferens.
    Am J Hum Genet. 1995 Oct;57(4):958-60 PMID: 7573058
  32. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.
    Eur J Hum Genet. 1995;3(5):285-93 PMID: 8556303
  33. Allergic aspergillosis in cystic fibrosis.
    Bibl Paediatr. 1967;86:227-36 PMID: 6054633
  34. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.
    Semin Hematol. 1990 Jul;27(3):209-28 PMID: 2197725
  35. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
    Proc Natl Acad Sci U S A. 1990 Nov;87(21):8447-51 PMID: 2236053
  36. Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis.
    BMJ. 1991 May 25;302(6787):1237-40 PMID: 2043846
  37. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Genomics. 1991 May;10(1):214-28 PMID: 1710598
  38. Recent advances in the polymerase chain reaction.
    Science. 1991 Jun 21;252(5013):1643-51 PMID: 2047872
  39. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations.
    N Engl J Med. 1991 Sep 12;325(11):769-74 PMID: 1870650
  40. Variability in parameters of allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.
    J Allergy Clin Immunol. 1991 Sep;88(3 Pt 1):390-4 PMID: 1890268
  41. Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.
    N Engl J Med. 1991 Dec 5;325(23):1630-4 PMID: 1944451
  42. Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.
    Klin Wochenschr. 1991 Sep 16;69(14):657-63 PMID: 1749205
  43. Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.
    JAMA. 1992 Apr 1;267(13):1794-7 PMID: 1545465
  44. Genetic determination of exocrine pancreatic function in cystic fibrosis.
    Am J Hum Genet. 1992 Jun;50(6):1178-84 PMID: 1376016
  45. A familial occurrence of allergic bronchopulmonary aspergillosis.
    Ann Intern Med. 1979 Sep;91(3):378-82 PMID: 382935
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1996-07-00
Pages
45-51
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1915108
Subset
IM
Grants
NIDDK NIH HHS · DK09024 · United States
NIDDK NIH HHS · DK44003 · United States
External Links
PubMed source PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2