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Genetic aspects of tuberous sclerosis in the west of Scotland.
Open accessAbstract
Complete ascertainment of tuberous sclerosis was attempted in the west of Scotland (population 2,763,000). A total of 101 patients was identified, giving an overall minimum prevalence of 1 in 27,000, but for children under 10 years of age the minimum prevalence was 1 in 12,000. Both parents of 84 of the ascertained cases were assessed for signs of tuberous sclerosis. In 51 pairs of parents no evidence of the condition was seen, indicating that up to 60% of the cases were new mutations. The mutation rate was estimated at 2.5 X 10(-5) mutations per gene per generation. Analysis of parental ages for the new mutations did not show a significant age effect. Thirty-five patients occurred in 13 families containing other affected subjects. The pattern of inheritance was consistent with an autosomal dominant trait in these families. In one sibship, non-penetrance or gonadal mosaicism resulted in affected sibs with normal parents. Of two further sibships where non-penetrance was suspected, one was shown to represent a single new mutation in monozygotic twins and the other to involve non-paternity.
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Citations
Cited by
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648
Self-citationIdentification and characterization of the tuberous sclerosis gene on chromosome 16
(1993) · Cell · doi:10.1016/0092-8674(93)90618-z · Cited by 1,645
Northrup, H., Krueger, D. A., Northrup, H., Krueger, D. A., Roberds, S., Smith, K., Sampson, J., Korf, B., Kwiatkowski, D. J., Mowat, D., et al. (2013) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2013.08.001 · Cited by 1,502
Self-citationEpidemiology of Tuberous Sclerosis
OSBORNE, J. P., FRYER, A., & WEBB, D. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb37754.x · Cited by 730
Kwiatkowski, D. J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.5.525 · Cited by 667
Metadata
- Authors
- Sampson, J. R., Scahill, S. J., Stephenson, J. B., Mann, L., & Connor, J. M.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1989-01
- Volume
- 26
- Issue
- 1
- Pages
- 28-31
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2129071898
- Cited by
- 230
- References
- 0
- FWCI
- 4.32
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Sampson, J. R., Scahill, S. J., Stephenson, J. B., Mann, L., & Connor, J. M. (1989). Genetic aspects of tuberous sclerosis in the west of Scotland. Journal of Medical Genetics. https://doi.org/10.1136/jmg.26.1.28
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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