Abstract
Four studies of NF1 support a prevalence of 0.0003 and a carrier incidence at birth of 0.0004. The gene frequency (q) is therefore 0.0002, and the proportion of cases owing to fresh mutation is 0.56. The mutation rate (xq) is 10(-4), an unusually high value suggestive of a large gene. Penetrance among subjects examined is virtually complete, and there is no evidence of phenocopies or somatic mutations.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Huson S. M., Compston D. A., Clark P., Harper P. S. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989 Nov;26(11):704–711. doi: 10.1136/jmg.26.11.704. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Huson S. M., Harper P. S., Compston D. A. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain. 1988 Dec;111(Pt 6):1355–1381. doi: 10.1093/brain/111.6.1355. [DOI] [PubMed] [Google Scholar]
- Jadayel D., Fain P., Upadhyaya M., Ponder M. A., Huson S. M., Carey J., Fryer A., Mathew C. G., Barker D. F., Ponder B. A. Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature. 1990 Feb 8;343(6258):558–559. doi: 10.1038/343558a0. [DOI] [PubMed] [Google Scholar]
- Jung E. G. Segmental neurofibromatosis (NF-5). Neurofibromatosis. 1988;1(5-6):306–311. [PubMed] [Google Scholar]
- Riccardi V. M., Lewis R. A. Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants. Am J Hum Genet. 1988 Feb;42(2):284–289. [PMC free article] [PubMed] [Google Scholar]
- Risch N., Reich E. W., Wishnick M. M., McCarthy J. G. Spontaneous mutation and parental age in humans. Am J Hum Genet. 1987 Aug;41(2):218–248. [PMC free article] [PubMed] [Google Scholar]
- Tanaka K. A new simplified method for estimating relative fitness in man. Jinrui Idengaku Zasshi. 1974 Dec;19(3):195–202. [PubMed] [Google Scholar]