Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1994 Jul;31(7):541–544. doi: 10.1136/jmg.31.7.541

Mutation analysis in 600 French cystic fibrosis patients.

F Chevalier-Porst 1, A M Bonardot 1, R Gilly 1, J P Chazalette 1, M Mathieu 1, D Bozon 1
PMCID: PMC1049976  PMID: 7525963

Abstract

The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 600 unrelated cystic fibrosis (CF) patients living in France (excluding Brittany) was screened for 105 different mutations. This analysis resulted in the identification of 86% of the CF alleles and complete genotyping of 76% of the patients. The most frequent mutations in this population after delta F508 (69% of the CF chromosomes) are G542X (3.3%), N1303K (1.8%), W1282X (1.5%), 1717-1G-->A (1.3%), 2184delA + 2183 A-->G (0.9%), and R553X (0.8%).

Full text

PDF
541

Images in this article

542Image
on p.542
543Image
on p.543

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Audrézet M. P., Mercier B., Guillermit H., Quéré I., Verlingue C., Rault G., Férec C. Identification of 12 novel mutations in the CFTR gene. Hum Mol Genet. 1993 Jan;2(1):51–54. doi: 10.1093/hmg/2.1.51. [DOI] [PubMed] [Google Scholar]
  2. Chevalier-Porst F., Chomel J. C., Hillaire D., Kitzis A., Kaplan J. C., Goutaland R., Mathieu M., Bozon D. A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island. Hum Mol Genet. 1992 Nov;1(8):647–648. doi: 10.1093/hmg/1.8.647. [DOI] [PubMed] [Google Scholar]
  3. Chevalier-Porst F., Mathieu M., Bozon D. Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8. Hum Mol Genet. 1993 Jul;2(7):1071–1072. doi: 10.1093/hmg/2.7.1071. [DOI] [PubMed] [Google Scholar]
  4. Chillón M., Casals T., Giménez J., Nunes V., Estivill X. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). Hum Mutat. 1994;3(3):223–230. doi: 10.1002/humu.1380030308. [DOI] [PubMed] [Google Scholar]
  5. Chillón M., Casals T., Nunes V., Giménez J., Estivill X. Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene. Hum Mol Genet. 1993 Aug;2(8):1317–1318. doi: 10.1093/hmg/2.8.1317. [DOI] [PubMed] [Google Scholar]
  6. Claustres M., Laussel M., Desgeorges M., Giansily M., Culard J. F., Razakatsara G., Demaille J. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France. Hum Mol Genet. 1993 Aug;2(8):1209–1213. doi: 10.1093/hmg/2.8.1209. [DOI] [PubMed] [Google Scholar]
  7. Cremonesi L., Ferrari M., Belloni E., Magnani C., Seia M., Ronchetto P., Rady M., Russo M. P., Romeo G., Devoto M. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. Hum Mutat. 1992;1(4):314–319. doi: 10.1002/humu.1380010409. [DOI] [PubMed] [Google Scholar]
  8. Cremonesi L., Seia M., Magnani C., Ferrari M. Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis. Clin Chem. 1991 Nov;37(11):1967–1967. [PubMed] [Google Scholar]
  9. Dörk T., Kälin N., Stuhrmann M., Schmidtke J., Tümmler B. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Hum Genet. 1992 Nov;90(3):279–284. doi: 10.1007/BF00220079. [DOI] [PubMed] [Google Scholar]
  10. Dörk T., Wulbrand U., Tümmler B. Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds. Genomics. 1993 Mar;15(3):688–691. doi: 10.1006/geno.1993.1127. [DOI] [PubMed] [Google Scholar]
  11. Estivill X., Farrall M., Scambler P. J., Bell G. M., Hawley K. M., Lench N. J., Bates G. P., Kruyer H. C., Frederick P. A., Stanier P. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. 1987 Apr 30-May 6Nature. 326(6116):840–845. doi: 10.1038/326840a0. [DOI] [PubMed] [Google Scholar]
  12. Kerem B., Rommens J. M., Buchanan J. A., Markiewicz D., Cox T. K., Chakravarti A., Buchwald M., Tsui L. C. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989 Sep 8;245(4922):1073–1080. doi: 10.1126/science.2570460. [DOI] [PubMed] [Google Scholar]
  13. Kobayashi K., Knowles M. R., Boucher R. C., O'Brien W. E., Beaudet A. L. Benign missense variations in the cystic fibrosis gene. Am J Hum Genet. 1990 Oct;47(4):611–615. [PMC free article] [PubMed] [Google Scholar]
  14. Kristidis P., Bozon D., Corey M., Markiewicz D., Rommens J., Tsui L. C., Durie P. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet. 1992 Jun;50(6):1178–1184. [PMC free article] [PubMed] [Google Scholar]
  15. Kälin N., Dörk T., Bozon D., Tümmler B. A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening. Hum Mol Genet. 1992 Oct;1(7):545–546. doi: 10.1093/hmg/1.7.545. [DOI] [PubMed] [Google Scholar]
  16. Kälin N., Dörk T., Tümmler B. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator. Hum Mutat. 1992;1(3):204–210. doi: 10.1002/humu.1380010305. [DOI] [PubMed] [Google Scholar]
  17. Liechti-Gallati S., Bonsall I., Malik N., Schneider V., Kraemer L. G., Ruedeberg A., Moser H., Kraemer R. Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations. Pediatr Res. 1992 Aug;32(2):175–178. doi: 10.1203/00006450-199208000-00010. [DOI] [PubMed] [Google Scholar]
  18. Ng I. S., Pace R., Richard M. V., Kobayashi K., Kerem B., Tsui L. C., Beaudet A. L. Methods for analysis of multiple cystic fibrosis mutations. Hum Genet. 1991 Sep;87(5):613–617. doi: 10.1007/BF00209023. [DOI] [PubMed] [Google Scholar]
  19. Riordan J. R., Rommens J. M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J. L. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066–1073. doi: 10.1126/science.2475911. [DOI] [PubMed] [Google Scholar]
  20. Rommens J. M., Iannuzzi M. C., Kerem B., Drumm M. L., Melmer G., Dean M., Rozmahel R., Cole J. L., Kennedy D., Hidaka N. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989 Sep 8;245(4922):1059–1065. doi: 10.1126/science.2772657. [DOI] [PubMed] [Google Scholar]
  21. Rommens J., Kerem B. S., Greer W., Chang P., Tsui L. C., Ray P. Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet. 1990 Feb;46(2):395–396. [PMC free article] [PubMed] [Google Scholar]
  22. Rozen R., De Braekeleer M., Daigneault J., Ferreira-Rajabi L., Gerdes M., Lamoureux L., Aubin G., Simard F., Fujiwara T. M., Morgan K. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am J Med Genet. 1992 Feb 1;42(3):360–364. doi: 10.1002/ajmg.1320420322. [DOI] [PubMed] [Google Scholar]
  23. Sangiuolo F., Lo Cicero S., Maceratesi P., Quattrucci S., Novelli G., Dallapiccola B. Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene. Hum Mutat. 1993;2(5):422–424. doi: 10.1002/humu.1380020517. [DOI] [PubMed] [Google Scholar]
  24. Savov A., Mercier B., Kalaydjieva L., Férec C. Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing. Hum Mol Genet. 1994 Jan;3(1):57–60. doi: 10.1093/hmg/3.1.57. [DOI] [PubMed] [Google Scholar]
  25. Shoshani T., Augarten A., Gazit E., Bashan N., Yahav Y., Rivlin Y., Tal A., Seret H., Yaar L., Kerem E. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet. 1992 Jan;50(1):222–228. [PMC free article] [PubMed] [Google Scholar]
  26. Trask B. J., Massa H., Kenwrick S., Gitschier J. Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei. Am J Hum Genet. 1991 Jan;48(1):1–15. [PMC free article] [PubMed] [Google Scholar]
  27. Tsui L. C. Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat. 1992;1(3):197–203. doi: 10.1002/humu.1380010304. [DOI] [PubMed] [Google Scholar]
  28. Zielenski J., Rozmahel R., Bozon D., Kerem B., Grzelczak Z., Riordan J. R., Rommens J., Tsui L. C. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics. 1991 May;10(1):214–228. doi: 10.1016/0888-7543(91)90503-7. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES