Paternal origin of new mutations in Von Recklinghausen neurofibromatosis (original) (raw)
- Letter
- Published: 08 February 1990
- P. Fain2,
- M. Upadhyaya3,
- M. A. Ponder1,
- S. M. Huson3,
- J. Carey2,
- A. Fryer3,
- C. G. P. Mathew1,
- D. F. Barker2 &
- …
- B. A. J. Ponder1
Nature volume 343, pages 558–559 (1990)Cite this article
- 206 Accesses
- 3 Altmetric
- Metrics details
Abstract
VON Recklinghausen neurofibromatosis (NF-1)1–4 is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10−4) is one of the highest for a human disorder1. Here we report that in 12 of 14 families we have analysed, the new mutation is of paternal origin. This result is similar to that recently obtained for retinoblastoma5,6. In other genetic disorders that show a bias towards paternal origin of new mutations, there is a marked increase in the incidence of mutations with paternal age7, consistent with the mutations arising from replication errors in mitosis of spermatogonial stem cells. In retinoblastoma and NF-1, however, such paternal age effects are slight or absent3,7,8. The mechanism or timing of germline mutation could therefore be different in the two cases.
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 SpringerLink
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Additional access options:
Similar content being viewed by others
References
- Huson, S. M., Compston, D. A. S., Clark, P. & Harper, P. S. J. med. Genet. 26, 704–711 (1989).
Article CAS Google Scholar - Huson, S. M., Harper, P. S. & Compston, D. A. S. Brain 111, 1355–1381 (1988).
Article Google Scholar - Riccardi, V. M. & Eichner, J. E. Neurofibromatosis (Johns Hopkins University Press, Baltimore and London, 1986).
Google Scholar - Collins, F. S., Ponder, B. A. J., Seizinger, B. R. & Epstein, C. J. Trends Genet. 5, 217–221 (1989).
Article CAS Google Scholar - Dryja, T. et al. Nature 339, 556–558 (1989).
Article ADS CAS Google Scholar - Zhu, X. et al. Nature 340, 312–313 (1989).
Article ADS CAS Google Scholar - Vogel, F. & Motulsky, A. G. Human Genetics 2nd Edn (Springer, Berlin, 1986).
Book Google Scholar - Riccardi, V. M., Dobson, C. E., Chakraborty, R. & Bontke, C. Am. J. med. Genet. 18, 169–176 (1984).
Article CAS Google Scholar - Winter, R. M. & Pembrey, M. E. Am. J. med. Genet. 12, 437–441 (1982).
Article CAS Google Scholar - Fain, P. M. et al. Am. J. hum. Genet. 45, 721–728 (1989).
CAS PubMed PubMed Central Google Scholar - Wolff, R. K., Plaetke, R., Jeffreys, A. J. & White, R. Genomics 5, 382–384 (1989).
Article CAS Google Scholar - Reik, W. & Surani, M. A. Nature 338, 112–113 (1989).
Article ADS CAS Google Scholar - Stumpf, D. A. et al. Neurofibromatosis Vol. 6, No. 12 (NIH Consensus Development Conferences Statement, 1987).
Google Scholar - O'Connell, P. et al. Am. J. hum. Genet. 44, 51–57 (1989).
CAS PubMed PubMed Central Google Scholar - Wong, Z., Wilson, V., Jeffreys, A. J. & Thein, S. L. Nucleic Acids Res. 14, 4605–4616 (1986).
Article CAS Google Scholar - Wong, Z., Wilson, V., Patel, I., Povey, S. & Jeffreys, A. J. Ann. hum. Genet. 51, 269–288 (1987).
Article CAS Google Scholar - Jeffreys, A. J., Wilson, V. & Thein, S. L. Nature 314, 67 (1985).
Article ADS CAS Google Scholar - Fraser, N. J., Boyd, Y., Brownlee, G. G. & Craig, I. W. Nucleic Acids Res. 15, 9616 (1987).
Article CAS Google Scholar
Author information
Authors and Affiliations
- Section of Human Cancer Genetics, Institute of Cancer Research, Button, Surrey, SM2 5NG, UK
D. Jadayel, M. A. Ponder, C. G. P. Mathew & B. A. J. Ponder - Department of Medical Informatics, University of Utah, Salt Lake City, Utah, 84108, USA
P. Fain, J. Carey & D. F. Barker - Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, CF4 4XN, UK
M. Upadhyaya, S. M. Huson & A. Fryer
Authors
- D. Jadayel
You can also search for this author inPubMed Google Scholar - P. Fain
You can also search for this author inPubMed Google Scholar - M. Upadhyaya
You can also search for this author inPubMed Google Scholar - M. A. Ponder
You can also search for this author inPubMed Google Scholar - S. M. Huson
You can also search for this author inPubMed Google Scholar - J. Carey
You can also search for this author inPubMed Google Scholar - A. Fryer
You can also search for this author inPubMed Google Scholar - C. G. P. Mathew
You can also search for this author inPubMed Google Scholar - D. F. Barker
You can also search for this author inPubMed Google Scholar - B. A. J. Ponder
You can also search for this author inPubMed Google Scholar
Rights and permissions
About this article
Cite this article
Jadayel, D., Fain, P., Upadhyaya, M. et al. Paternal origin of new mutations in Von Recklinghausen neurofibromatosis.Nature 343, 558–559 (1990). https://doi.org/10.1038/343558a0
- Received: 18 October 1989
- Accepted: 19 December 1989
- Issue Date: 08 February 1990
- DOI: https://doi.org/10.1038/343558a0