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J Med Genet. 1989 January; 26(1): 28–31.
PMCID: PMC1015532

Genetic aspects of tuberous sclerosis in the west of Scotland.

Abstract

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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Selected References

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  • Hunt A, Lindenbaum RH. Tuberous sclerosis: a new estimate of prevalence within the Oxford region. J Med Genet. 1984 Aug;21(4):272–277. [PMC free article] [PubMed]
  • Wilson J, Carter C. Genetics of tuberose sclerosis. Lancet. 1978 Feb 11;1(8059):340–340. [PubMed]
  • Baraitser M, Patton MA. Reduced penetrance in tuberous sclerosis. J Med Genet. 1985 Feb;22(1):29–31. [PMC free article] [PubMed]
  • Connor JM, Stephenson JB, Hadley MD. Non-penetrance in tuberous sclerosis. Lancet. 1986 Nov 29;2(8518):1275–1275. [PubMed]
  • Primrose DA. Epiloia in twins: a problem in diagnosis and counselling. J Ment Defic Res. 1975 Sep-Dec;19(3-4):195–203. [PubMed]
  • BORBERG A. Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes. Acta Psychiatr Neurol Scand Suppl. 1951;71:1–239. [PubMed]
  • FISHER OD, STEVENSON AC. Frequency of epiloia in Northern Ireland. Br J Prev Soc Med. 1956 Jul;10(3):134–135. [PMC free article] [PubMed]
  • Singer K. Genetic aspects of tuberous sclerosis in a Chinese population. Am J Hum Genet. 1971 Jan;23(1):33–40. [PubMed]
  • Nevin NC, Pearce WG. Diagnostic and genetical aspects of tuberous sclerosis. J Med Genet. 1968 Dec;5(4):273–280. [PMC free article] [PubMed]
  • Zaremba J. Tuberous sclerosis: a clinical and genetical investigation. J Ment Defic Res. 1968 Mar;12(1):63–80. [PubMed]
  • Wiederholt WC, Gomez MR, Kurland LT. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology. 1985 Apr;35(4):600–603. [PubMed]
  • Fleury P, de Groot WP, Delleman JW, Verbeeten B, Jr, Frankenmolen-Witkiezwicz IM. Tuberous sclerosis: the incidence of sporadic cases versus familial cases. Brain Dev. 1980;2(2):107–117. [PubMed]
  • Bundey S, Evans K. Tuberous sclerosis: a genetic study. J Neurol Neurosurg Psychiatry. 1969 Dec;32(6):591–603. [PMC free article] [PubMed]
  • Rushton AR, Shaywitz BA. Tuberous sclerosis: possible modification of phenotypic expression by an unlinked dominant gene. J Med Genet. 1979 Feb;16(1):32–35. [PMC free article] [PubMed]
  • Lowry RB, Dunn HG, Paris RP. Inheritance of tuberous sclerosis. Lancet. 1979 Jan 27;1(8109):216–216. [PubMed]
  • Crawford DC, Garrett C, Tynan M, Neville BG, Allan LD. Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis. J Med Genet. 1983 Aug;20(4):303–304. [PMC free article] [PubMed]
  • Journel H, Roussey M, Plais MH, Milon J, Almange C, Le Marec B. Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound. Prenat Diagn. 1986 Jul-Aug;6(4):283–289. [PubMed]
  • Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, Yates JR, Osborne JP. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet. 1987 Mar 21;1(8534):659–661. [PubMed]
  • Connor JM, Pirrit LA, Yates JR, Fryer AE, Ferguson-Smith MA. Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl. J Med Genet. 1987 Sep;24(9):544–546. [PMC free article] [PubMed]
  • Connor JM, Loughlin SA, Whittle MJ. First trimester prenatal exclusion of tuberous sclerosis. Lancet. 1987 May 30;1(8544):1269–1269. [PubMed]
  • Northrup H, Beaudet AL, O'Brien WE, Herman GE, Lewis RA, Pollack MS. Linkage of tuberous sclerosis to ABO blood group. Lancet. 1987 Oct 3;2(8562):804–805. [PubMed]
  • Renwick JH. Tuberous sclerosis and ABO. Lancet. 1987 Nov 7;2(8567):1096–1097. [PubMed]

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