A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations

New England Journal of Medicine

Volumn 331, Issue 15, 1994, Pages 974-980

  Highsmith, W Edward ^a   Burch, Lauranell H ^b   Zhou, Zhaoqing ^b,c   Olsen, John C ^b   Boat, Thomas E ^d   Spock, Alexander ^e   Gorvoy, Jack D ^f   Quittell, Lynne ^g   Friedman, Kenneth J ^c   Silverman, Lawrence M ^c   Boucher, Richard C ^b   Knowles, Michael R ^b  

^a APPLIED GENETIC TECHNOLOGIES CORPORATION   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c Division of Molecular Pathlogy ^*  (United States)

^d CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^e DUKE UNIVERSITY   (United States)

^f LONG ISLAND JEWISH MEDICAL CENTER   (United States)

^g New York Presbyterian Hospital Columbia University Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE ION; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ACINAR CELL; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL ARTICLE; CYSTIC FIBROSIS; FEMALE; GENETIC SCREENING; HAPLOTYPE; HUMAN; INTRON; MALE; NOSE MUCOSA; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; RNA TRANSCRIPTION; SWEAT TEST;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CHLORIDES; CHROMOSOMES, HUMAN, PAIR 17; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; INTRONS; LUNG DISEASES, OBSTRUCTIVE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NASAL MUCOSA; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SWEAT;

EID: 0028086056     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199410133311503     Document Type: Article

References (38)

1. Riordan JR, Rommens JM, Kerem B, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066-1073 [Erratum, Science 1989;245:1437.]
2. Kerem B, Rommens JM, Buchanan JA, Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-1080
3. Collins FS Cystic fibrosis: molecular biology and therapeutic implications. Science 1992; 256: 774-779
4. Anderson MP, Gregory RJ, Thompson S, Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 1991; 253: 202-205
5. Bear CE, Li C, Kartner N, Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 1992; 68: 809-818
6. Boat TF, Welsh MJ, Beaudet AL. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. Vol. 2. 6th ed. New York: McGraw-Hill, 1989:2649-80.
7. Gibson LE, Cooke RE A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959; 23: 545-549
8. Davis PB, Del Rio S, Muntz JA, Dieckman L Sweat chloride concentration in adults with pulmonary diseases. Am Rev Respir Dis 1983; 128: 34-37
9. Friedman KJ, Highsmith WE Jr, Silverman LM Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem 1991; 37: 753-755
10. Chirgwin JM, Przybyla AE, MacDonald RJ, Rutter WJ Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 1979; 18: 5294-5299
11. Knowles MR, Carson JL, Collier AM, Gatzy JT, Boucher RC Measurements of nasal transepithelial electric potential differences in normal human subjects in vivo. Am Rev Respir Dis 1981; 124: 484-490
12. Gyllensten UB, Erlich HA Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci U S A 1988; 85: 7652-7656
13. Trapnell BC, Chu C-S, Paakko PK, Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis. Proc Natl Acad Sci U S A 1991; 88: 6565-6569
14. Gunning P, Ponte P, Okayama H, Engel J, Blau H, Kedes L Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed. Mol Cell Biol 1983; 3: 787-795
15. Erba HP, Gunning P, Kedes L Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes. Nucleic Acids Res 1986; 14: 5275-5294
16. Beaudet AL, Spence JE, Montes M, Experience with new DNA markers for the diagnosis of cystic fibrosis. N Engl J Med 1988; 318: 50-51
17. Dork T, Neumann T, Wulbrand U, Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 1992; 88: 417-425
18. Quinton PM, Bijman J Higher bioelectric potentials due to decreased chloride absorption in the sweat glands of patients with cystic fibrosis. N Engl J Med 1983; 308: 1185-1189
19. Bijman J, Quinton PM Influence of abnormal Cl- impermeability on sweating in cystic fibrosis. Am J Physiol 1984; 247: C3-C9
20. Sato K, Sato F Defective beta adrenergic response of cystic fibrosis sweat glands in vivo and in vitro. J Clin Invest 1984; 73: 1763-1771
21. Sato K, Sato F Variable reduction in beta-adrenergic sweat secretion in cystic fibrosis heterozygotes. J Lab Clin Med 1988; 111: 511-518
22. Strong TV, Smit LS, Turpin SV, Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels. N Engl J Med 1991; 325: 1630-1634
23. Knowles M, Gatzy J, Boucher R Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis. N Engl J Med 1981; 305: 1489-1495
24. Knowles M, Gatzy J, Boucher R Relative ion permeability of normal and cystic fibrosis nasal epithelium. J Clin Invest 1983; 71: 1410-1417
25. Knowles M, Gatzy J, Boucher R Modulation of nasal epithelial ion permeability in normal and cystic fibrosis subjects in vivo. Clin Res 1983; 31: 858A-858A abstract.
26. Davis PB, Hubbard VS, Di Sant'Agnese PA Low sweat electrolytes in a patient with cystic fibrosis. Am J Med 1980; 69: 643-646
27. Kerem E, Corey M, Kerem B-S, The relation between genotype and phenotype in cystic fibrosis -- analysis of the most common mutation (ΔF508). N Engl J Med 1990; 323: 1517-1522
28. Shwachman H. The heterogeneity of cystic fibrosis. In: Bergsma D, ed. The Fourth Conference on the Clinical Delineation of Birth Defects: Part XIII: G.I. tract including liver and pancreas. Birth defects: original article series. Baltimore: Williams & Wilkins, 1972:102-7.
29. Stern RC, Boat TF, Abramowsky CR, Matthews LW, Wood RE, Doershuk CF Intermediate-range sweat chloride concentration and Pseudomonas bronchitis: a cystic fibrosis variant with preservation of exocrine pancreatic function. JAMA 1978; 239: 2676-2680
30. Cooper DN, Krawczak M The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet 1990; 85: 55-74
31. Gilbert W Why genes in pieces? Nature 1978; 271: 501-501
32. Cheng T-C, Orkin SH, Antonarakis SE, β-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci U S A 1984; 81: 2821-2825
33. Chu C-S, Trapnell BC, Curristin SM, Cutting GR, Crystal RG 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; 90: 785-790
34. Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. Vol. 2. 6th ed. New York: McGraw-Hill, 1989:2281-339.
35. The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mutat 1994; 4: 167-177
36. Abeliovich D, Lavon IP, Lerer I, Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992; 51: 951-956
37. Gilbert F, Giampietro P, Li Z, Rosales N, NY CF Research Network. Genotype/phenotype correlations in CF: lessons from the mutation 3849+10. Pediatr Pulmonol 1992; 14: Suppl 8: 240-240 abstract.
38. Augarten A, Kerem B-S, Yahav Y, Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-to-T mutation. Lancet 1993; 342: 25-26