Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis

Pediatrics

Volumn 103, Issue 4 I, 1999, Pages 823-826

  Kercsmar, Carolyn M ^a   Chmiel, James F ^a   Drumm, Mitchell L ^a   Konstan, Michael W ^a   Ferkol, Thomas W ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

CFTR; Genetic testing; Phenotype

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; BRONCHOSCOPY; CASE REPORT; CLINICAL FEATURE; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; INFANT; LUNG LAVAGE; PRIORITY JOURNAL;

CHLORIDES; CYSTIC FIBROSIS; DIAGNOSTIC ERRORS; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT; MUTATION; PHENOTYPE; SWEAT;

EID: 0345104274     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.103.4.823     Document Type: Article

References (17)

1. Rosenstein BJ, Cutting GR, for the Cystic Fibrosis Foundation Consensus Panel. The diagnosis of cystic fibrosis: a consensus statement. J Pediatr. 1998;132:589-595
2. Davis PB, Drumm M, Konstan MW. Cystic fibrosis: state of the art. Am J Respir Crit Care Med. 1996;154:1229-1256
3. Chu C-S, Trapnell BC, Murtagh JJ Jr, et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J. 1991;10:1355-1363
4. Kerem E, Rave-Harel N, Augarten A, et al. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. Am J Respir Crit Care Med. 1997;155:1914-1920
5. Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332:1475-1480
6. Kiesewetter S, Macek M Jr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet. 1993;5:274-277
7. Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther. 1995;6:445-455
8. Konstan MW, Hilliard KA, Norvell TM, Berger M. Bronchoalveolar lavage findings in cystic fibrosis patients with stable, clinically mild lung disease suggest ongoing infection and inflammation. Am J Respir Crit Care Med. 1994;150:448-454
9. Bonfield TL, Panuska JR, Konstan MW, et al. Inflammatory cytokines in cystic fibrosis lungs. Am J Respir Crit Care Med. 1995;152:2111-2118
10. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. 2nd ed. Cold Spring Harbor: Cold Spring Harbor Laboratory Press; 1989;6.3-6.6; 9.14-9.58
11. Chu C-S, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nature Genet. 1993;3:151-156
12. Khan TZ, Wagener JS, Bost T, Martinez J, Accurso FJ, Riches DWH. Early pulmonary inflammation in infants with cystic fibrosis. Am J Respir Crit Care Med. 1995;151:1075-1082
13. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med. 1993;329:1308-1313
14. Gan K-H, Veeze HJ, van den Ouweland Ans MW, et al. A cystic fibrosis mutation associated with mild lung disease. N Engl J Med. 1995;333: 95-99
15. Rozmahel R, Wilschanski M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary factor. Nature Genet. 1996;12:280-287
16. Rosenbluth D, Goodenberger D. Cystic fibrosis in an elderly woman. Chest. 1997;112:1124-1126
17. Stern RC. Current concepts. The diagnosis of cystic fibrosis. N Engl J Med. 1997;336:487-491