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J Med Genet. 1991 July; 28(7): 443–447.
PMCID: PMC1016952

Von Hippel-Lindau disease: a genetic study.

Abstract

Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between families ascertained through complete and incomplete selection. The point prevalence of heterozygotes in East Anglia was 1.89/100,000 (1/53,000) persons with an estimated birth incidence of 2.73/100,000 (1/36,000) live births. Reproductive fitness was 0.83. Direct and indirect estimates of the mutation rate were 4.4 (95% CI 0.9 to 7.9) x 10(-6)/gene/generation and 2.32 x 10(-6)/gene/generation respectively. There was no significant association between parental age or birth order and new mutations for VHL disease.

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Selected References

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  • MELMON KL, ROSEN SW. LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED. Am J Med. 1964 Apr;36:595–617. [PubMed]
  • Lamiell JM, Salazar FG, Hsia YE. von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) 1989 Jan;68(1):1–29. [PubMed]
  • NICOL AAM. Lindau's disease in five generations. Ann Hum Genet. 1957 Oct;22(1):7–15. [PubMed]
  • Lauritsen JG. Lindau's disease. A study of one family through six generations. Acta Chir Scand. 1973;139(5):482–486. [PubMed]
  • Shokeir MH. Von Hippel-Lindau syndrome: a report on three kindreds. J Med Genet. 1970 Jun;7(2):155–157. [PMC free article] [PubMed]
  • Huson SM, Harper PS, Hourihan MD, Cole G, Weeks RD, Compston DA. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain. 1986 Dec;109(Pt 6):1297–1310. [PubMed]
  • Maher ER, Bentley E, Yates JR, Barton D, Jennings A, Fellows IW, Ponder MA, Ponder BA, Benjamin C, Harris R, et al. Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis. J Neurol Sci. 1990 Dec;100(1-2):27–30. [PubMed]
  • Lalouel JM, Morton NE. Complex segregation analysis with pointers. Hum Hered. 1981;31(5):312–321. [PubMed]
  • Bundey S, Harrison MJ, Marsden CD. A genetic study of torsion dystonia. J Med Genet. 1975 Mar;12(1):12–19. [PMC free article] [PubMed]
  • Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM, Haines J, Yuen JW, Collins D, Majoor-Krakauer D, et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988 Mar 17;332(6161):268–269. [PubMed]
  • Go RC, Lamiell JM, Hsia YE, Yuen JW, Paik Y. Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred. Am J Hum Genet. 1984 Jan;36(1):131–142. [PubMed]
  • Müller-Jensen A, Zangemeister WH, Küchler J, Herrmann HD. Hämangioblastome des Zentralnervensystems. Eine klinische Studie. Eur Arch Psychiatry Neurol Sci. 1984;234(3):149–156. [PubMed]
  • CRAMER F, KIMSEY MW. The cerebellar hemangioblastomas; review of fifty-three cases with special reference to cerebellar cysts and the association of polycythemia. AMA Arch Neurol Psychiatry. 1952 Feb;67(2):237–252. [PubMed]
  • Palmer JJ. Haemangioblastomas. A review of 81 cases. Acta Neurochir (Wien) 1972;27(3):125–148. [PubMed]
  • MEREDITH JM, HENNIGAR GR. Cerebellar hemangiomas; a clinico-pathologic study of fourteen cases. Am Surg. 1954 Apr;20(4):410–423. [PubMed]
  • Neumann HP, Eggert HR, Weigel K, Friedburg H, Wiestler OD, Schollmeyer P. Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome. J Neurosurg. 1989 Jan;70(1):24–30. [PubMed]
  • Piotrowski W, Röhrborn G. Eine Familienstudie des klassischen Falles von v. Hippellindausyndrom. Langenbecks Arch Chir. 1965 Aug 30;311(3):310–322. [PubMed]
  • BLANK CE. Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases. Ann Hum Genet. 1960 May;24:151–164. [PubMed]
  • Huson SM, Compston DA, Clark P, Harper PS. 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. [PMC free article] [PubMed]
  • Sampson JR, Scahill SJ, Stephenson JB, Mann L, Connor JM. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989 Jan;26(1):28–31. [PMC free article] [PubMed]
  • Dryja TP, Mukai S, Petersen R, Rapaport JM, Walton D, Yandell DW. Parental origin of mutations of the retinoblastoma gene. Nature. 1989 Jun 15;339(6225):556–558. [PubMed]
  • Jadayel D, Fain P, Upadhyaya M, Ponder MA, Huson SM, Carey J, Fryer A, Mathew CG, Barker DF, Ponder BA. Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature. 1990 Feb 8;343(6258):558–559. [PubMed]

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