Abstract
CYSTICfibrosis (CF) is a common recessive lethal genetic disorder, affecting 1 in 1,600 Caucasians1. The disease causes defective regulation of chloride-ion transport in exocrine cells2–5. Although in all CF families the disease is linked to a locus on chromosome 7q31 (refs 6-11), there is clinical heterogeneity in the severity of the disease and the age at which it is diagnosed. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene12–13. A three-nucleotide deletion (δF508) causing the loss of a phenylalanine residue in the tenth exon of the CFTR gene has been found on 70% of CF chromosomes12–14 We have now characterized a CF family in which neither parent of the affected individual carries the common mutation, and identified a two-nucleotide insertion in the CF allele of the mother. The mutation introduces a termination codon in exon 13 of the CFTR gene at residue 821, and is predicted to result in the production of a severely truncated nonfunctional protein.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Boat, T. F., Welsh, M. J. & Beaudet, A. L. in The Metabolic Basis of Inherited Disease (eds Scriver, C, L., Beaudet, A. L, Sly, W, S. & Valle, D.) 2649–2680 (McGraw-Hill, New York, 1987).
Frizzell, R. A. Trends Neurosci. 10, 190–193 (1987).
Jetten, A. M., Yankaskas, J. R., Stutts, M. J. Willumsen, N. J. & Boucher, R. C. Science 244, 1472–1475 (1989).
Hwang, T.-C. et al. Science 244, 1351–1353 (1989).
Li, M. et al. Science 244, 1353–1356 (1989).
White, R. et al. Nature 318, 382–384 (1985).
Dean, M. et al. Nature 318, 385–388 (1985).
Tsui, L-C. et al. Science 230, 1054–1057 (1985).
Wainwright, B. J. et al. Nature 318, 384–385 (1985).
Lathorp, G. M. et al. Am. J. hum. Genet. 42, 38–44 (1988).
Dean, M. Genomics 3, 93–99 (1988).
Riordan, J. R. et al. Science 245, 1066–1073 (1989).
Rommens, J. M. et al. Science 245, 1059–1065 (1989).
Kerem, B.-S. et al. Science 245, 1073–1080 (1989).
Saiki, R. K. et al. Science 239, 487 (1988).
Rosenstein, B. J. & Langbaum, T. S. in Cystic Fibrosis (ed. Taussig, L. M.) 85–114 (Thieme-Stratton, New York, 1984).
Amos, J. A., Janes, S. R. & Erbe, E. W. Clin. Invest. Med. 13, 1–5 (1989).
di Sant'Agnese, P. A. & Powell, G. F. Ann. N.Y. Acad Sci. 93, 555–599 (1962).
Litt, M. & Luty, J. A. Am. J. hum. Genet. 44, 397–401 (1989).
Weber, J. L. & May, P. E. Am. J. hum. Genet. 44, 388–396 (1989).
Wolff, R. K., Nakamura, Y. & White, R. Genomics 3, 347–351, (1988).
Estivill, X., Schmidtke, J., Williamson, R. & Wainwright, B. Hum. Genet. 74, 320–322 (1986).
Estivill, X. et al. Am. J. hum. Genet. 44, 704–710 (1989).
Iannuzzi, M. C. et al. Am. J. hum. Genet. 44, 695–703 (1989).
Bartels, I., Grezeschnik, K.-H., Cooper, D. N. & Schmidke, J. Am. J. hum. Genet. 38, 280–287 (1986).
Maniatis, T., Fritsch, E. F. & Sambrook, J. in Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory, New York, 1982).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
White, M., Amos, J., Hsu, J. et al. A frame-shift mutation in the cystic fibrosis gene. Nature 344, 665–667 (1990). https://doi.org/10.1038/344665a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/344665a0
This article is cited by
-
Liposome-based Formulation for Intracellular Delivery of Functional Proteins
Molecular Therapy - Nucleic Acids (2015)
-
May the Truth Be with You: Lubiprostone as EP Receptor Agonist/ClC-2 Internalizing “Inhibitor”
Digestive Diseases and Sciences (2012)
-
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
Nature (1992)
-
Detection of over 98% cystic fibrosis mutations in a Celtic population
Nature Genetics (1992)
-
CFTR illegitimate transcription in lymphoid cells: quantification and applications to the investigation of pathological transcripts
Human Genetics (1992)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.