Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients

European Respiratory Journal

Volumn 9, Issue 11, 1996, Pages 2207-2214

  Hubert, D ^a   Bienvenu, T ^a   Desmazes Dufeu, N ^a   Fajac, I ^a   Lacronique, J ^a   Matran, R ^a   Kaplan, J C ^a   Dusser, D J ^a,b  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b Université Paris Descartes   (France)

Author keywords

Cystic fibrosis; Cystic fibrosis transmembrane conductance; Genotype phenotype; Pulmonary function; Regulator

Indexed keywords

ANTIBIOTIC AGENT; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; BACTERIAL INFECTION; CLINICAL FEATURE; COHORT ANALYSIS; CYSTIC FIBROSIS; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; INTRAVENOUS DRUG ADMINISTRATION; LUNG DISEASE; LUNG FUNCTION TEST; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; PANCREAS INSUFFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; SWEAT TEST;

ADOLESCENT; ADULT; ARTERIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; FORCED EXPIRATORY VOLUME; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MUTATION; OXYGEN; PHENOTYPE; PSEUDOMONAS AERUGINOSA; RESPIRATORY SYSTEM; VITAL CAPACITY;

EID: 0029860775     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.96.09112207     Document Type: Article

References (30)

1. Riordan JR, Rommens JM, Kerem BS, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066-1073.
2. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-1080.
3. Tsui LC. The spectrum of cystic fibrosis mutations. Trends Genet 1992; 8: 392-398.
4. Rosenstein BJ. Genotype-phenotype correlations in cystic fibrosis. Lancet 1994; 343: 746-747.
5. Kerem E, Corey MD, Kerem BS, et al. The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (ΔF508). N Engl J Med 1990; 323: 1517-1522.
6. Borgo G, Gasparini P, Bonizzato A, Cabrini G, Mastella G, Pignatti PF. Cystic fibrosis: the ΔF508 mutation does not lead to an exceptionally severe phenotype. A cohort study. Eur J Pediatr 1993; 152: 1006-1011.
7. Santis G, Osbome L, Knight RA, Hodson ME. Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet 1990; 336: 1081-1084.
8. Johansen HK, Nir M, Høiby N, Koch C, Schwartz M. Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation. Lancet 1991; 337: 631-634.
9. Campbell PW, Phillips JA, Krishnamani MRS, Maness KL, Hazinki TA. Cystic fibrosis: relationship between clinical status and ΔF508 deletion. J Pediatr 1991; 118: 239-241.
10. Burke W, Aitken ML, Chen SH, Scott CR. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Thorax 1992; 102: 506-509.
11. The Cystic Fibrosis Genotype-Phenotypc Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 1993; 329: 1308-1313.
12. Kubesch P, Dörk T, Wulbrand U, et al. Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis. Lancet 1993; 341: 189-193.
13. Strong TV, Smit LS, Turpin SV, et al. Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolytes levels. N Engl J Med 1990; 325: 1630-1634.
14. Gan KH, Veeze HJ, Van den Ouweland AMW, et al. A cystic fibrosis mutation asociated with mild lung disease. N Engl J Med 1995; 333: 95-99.
15. Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993; 73: 1251-1254.
16. Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C. Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotidc. Hum Genet 1995; 6: 23-29.
17. Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992; 13: 770-776.
18. Sanger F, Milken S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci 1977; 74: 5463-5467.
19. Highsmith WE, Burch LH, Zhou Z, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994; 331: 974-980.
20. Chillòn M, Dörk T, Casals T, et al. A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811 + 1.6 kb A→G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet 1995; 56: 623-629.
21. Augarten A, Kerem BS, Yahav Y, et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849+10kb C→T mutation. Lancet 1993; 342: 25-26.
22. Kanakis E, Tzetis M, Antonialdi T, et al. Mild cystic fibrosis phenotype in patients with the 3272-26 A/G mutation. J Med Genet 1995; 32: 406-407.
23. Zar JH. Biostatistical analysis. Englewood Cliffs, NJ, USA, Prentice-Hall, 1984; pp. 718.
24. Férec C, Verlingue C, Guillermit H, et al. Genotype analysis of adult cystic fibrosis patients. Hum Mol Genet 1993; 2: 1557-1560.
25. Kristidis P, Bozon D, Corey M, et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992; 50: 1178-1184.
26. Cutting GR, Kasch LM, Rosenstein BJ, Tsui LC, Kazazian HH, Antonarakis SE. Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease. N Engl J Med 1990; 323: 1685-1689.
27. Kiesewetter S, Macek MJ, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet 1993; 5: 274-278.
28. 1- antitrypsin in patients with cystic fibrosis, homozygous and heterozygous for ΔF508. Pediatr Pulmonol 1994; 18: 3-7.
29. Campbell PW, Parker RA, Roberts BT, Krishnamani MR, Phillips JA. Association of poor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the ΔF508 deletion. J Pediatr 1992; 120: 261-264.
30. Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 1994; 93: 364-368.