{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T02:38:44Z","timestamp":1790995124825,"version":"4.1.0"},"reference-count":26,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,1]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.26.1.28","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"28-31","source":"Crossref","is-referenced-by-count":174,"title":["Genetic aspects of tuberous sclerosis in the west of Scotland."],"prefix":"10.1136","volume":"26","author":[{"given":"J R","family":"Sampson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S J","family":"Scahill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J B","family":"Stephenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Mann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Connor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1989,1,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1136\/jmg.21.4.272","article-title":"Tuberous sclerosis: a new estimate of prevalence within the Oxford region","volume":"21","author":"Hunt, A.; Lindenbaum, R.H.","year":"1984","unstructured":"Hunt A, Lindenbaum RH. Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J Med Genet 1984;21: 272-7.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"11","article-title":"Clinical experience at the Mayo Clinic","author":"Gomez, M.R.","year":"1979","unstructured":"Gomez MR. Clinical experience at the Mayo Clinic. In: Gomez MR, ed. Tuberous sclerosis. New York: Raven Press, 1979: 11-26."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/S0140-6736(78)90125-3","article-title":"Genetics of tuberous sclerosis","volume":"i:","author":"Wilson, J.; Carter, C.O.","year":"1978","unstructured":"Wilson J, Carter CO. Genetics of tuberous sclerosis. Lancet 1978;i:340.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/jmg.22.1.29","article-title":"Reduced penetrance in tuberous sclerosis","volume":"22","author":"Baraitser, M.; Patton, M.A.","year":"1985","unstructured":"Baraitser M, Patton MA. Reduced penetrance in tuberous sclerosis. J Med Genet 1985;22:29-31.","journal-title":"J Med Genet"},{"key":"ref_5","first-page":"1275","article-title":"Non-penetrance in tuberous sclerosis","volume":"ii:","author":"Connor, J.M.; Stephenson, J.B.P.; Hadley, M.D.M.","year":"1986","unstructured":"Connor JM, Stephenson JBP, Hadley MDM. Non-penetrance in tuberous sclerosis. Lancet 1986;ii: 1275.","journal-title":"Lancet"},{"key":"ref_6","article-title":"Annual report of the Registrar General for Scotland 1986","year":"1986","unstructured":"Annual report of the Registrar General for Scotland 1986. London: HMSO, 1986."},{"key":"ref_7","first-page":"195","article-title":"Epiloia in twins: a problem in diagnosis and counselling","volume":"19","author":"Primrose, D.A.","year":"1975","unstructured":"Primrose DA. Epiloia in twins: a problem in diagnosis and counselling. 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In: Vinken PJ, Bruyn GW, eds. The phakomatoses. Handbook of clinical neurology. Vol 14. Amsterdam: North-Holland, 1972:340-89."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1212\/WNL.35.4.600","article-title":"Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982","volume":"35","year":"1985","unstructured":"Wiederholt WC, Gomez MR, Kurland LT. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology (Minneap) 1985;35:600-3.","journal-title":"Neurology (Minneap)"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0387-7604(80)80031-3","article-title":"Tuberous sclerosis: the incidence of sporadic versus familial cases","volume":"2","author":"Fleury, P.; de Groot, M.P.; Delleman, J.W.; B, Jr, Verbeeten; Frankenmolen-Witkiezwicz, I.M.","year":"1980","unstructured":"Fleury P, de Groot MP, Delleman JW, Verbeeten B Jr, Frankenmolen-Witkiezwicz IM. 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