Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1991 Jul;28(7):443–447. doi: 10.1136/jmg.28.7.443

Von Hippel-Lindau disease: a genetic study.

E R Maher 1, L Iselius 1, J R Yates 1, M Littler 1, C Benjamin 1, R Harris 1, J Sampson 1, A Williams 1, M A Ferguson-Smith 1, N Morton 1
PMCID: PMC1016952  PMID: 1895313

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.

Full text

PDF
443

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BLANK C. E. Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases. Ann Hum Genet. 1960 May;24:151–164. doi: 10.1111/j.1469-1809.1959.tb01728.x. [DOI] [PubMed] [Google Scholar]
  2. Bundey S., Harrison M. J., Marsden C. D. A genetic study of torsion dystonia. J Med Genet. 1975 Mar;12(1):12–19. doi: 10.1136/jmg.12.1.12. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. CRAMER F., KIMSEY M. W. 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] [Google Scholar]
  4. Dryja T. P., Mukai S., Petersen R., Rapaport J. M., Walton D., Yandell D. W. Parental origin of mutations of the retinoblastoma gene. Nature. 1989 Jun 15;339(6225):556–558. doi: 10.1038/339556a0. [DOI] [PubMed] [Google Scholar]
  5. Go R. C., Lamiell J. M., Hsia Y. E., Yuen J. W., 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. [PMC free article] [PubMed] [Google Scholar]
  6. 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]
  7. Huson S. M., Harper P. S., Hourihan M. D., Cole G., Weeks R. D., Compston D. A. Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain. 1986 Dec;109(Pt 6):1297–1310. doi: 10.1093/brain/109.6.1297. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. Lalouel J. M., Morton N. E. Complex segregation analysis with pointers. Hum Hered. 1981;31(5):312–321. doi: 10.1159/000153231. [DOI] [PubMed] [Google Scholar]
  10. Lamiell J. M., Salazar F. G., Hsia Y. E. von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore) 1989 Jan;68(1):1–29. doi: 10.1097/00005792-198901000-00001. [DOI] [PubMed] [Google Scholar]
  11. Lauritsen J. G. Lindau's disease. A study of one family through six generations. Acta Chir Scand. 1973;139(5):482–486. [PubMed] [Google Scholar]
  12. MELMON K. L., ROSEN S. W. LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED. Am J Med. 1964 Apr;36:595–617. doi: 10.1016/0002-9343(64)90107-x. [DOI] [PubMed] [Google Scholar]
  13. MEREDITH J. M., HENNIGAR G. R. Cerebellar hemangiomas; a clinico-pathologic study of fourteen cases. Am Surg. 1954 Apr;20(4):410–423. [PubMed] [Google Scholar]
  14. Maher E. R., Bentley E., Yates J. R., Barton D., Jennings A., Fellows I. W., Ponder M. A., Ponder B. A., Benjamin C., Harris R. Mapping of von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis. J Neurol Sci. 1990 Dec;100(1-2):27–30. doi: 10.1016/0022-510x(90)90008-b. [DOI] [PubMed] [Google Scholar]
  15. Müller-Jensen A., Zangemeister W. H., Küchler J., Herrmann H. D. Hämangioblastome des Zentralnervensystems. Eine klinische Studie. Eur Arch Psychiatry Neurol Sci. 1984;234(3):149–156. doi: 10.1007/BF00461553. [DOI] [PubMed] [Google Scholar]
  16. NICOL A. A. M. Lindau's disease in five generations. Ann Hum Genet. 1957 Oct;22(1):7–15. doi: 10.1111/j.1469-1809.1957.tb01293.x. [DOI] [PubMed] [Google Scholar]
  17. Neumann H. P., Eggert H. R., Weigel K., Friedburg H., Wiestler O. D., 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. doi: 10.3171/jns.1989.70.1.0024. [DOI] [PubMed] [Google Scholar]
  18. Palmer J. J. Haemangioblastomas. A review of 81 cases. Acta Neurochir (Wien) 1972;27(3):125–148. doi: 10.1007/BF01401877. [DOI] [PubMed] [Google Scholar]
  19. Piotrowski W., Röhrborn G. Eine Familienstudie des klassischen Falles von v. Hippellindausyndrom. Langenbecks Arch Chir. 1965 Aug 30;311(3):310–322. doi: 10.1007/BF01539824. [DOI] [PubMed] [Google Scholar]
  20. Sampson J. R., Scahill S. J., Stephenson J. B., Mann L., Connor J. M. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989 Jan;26(1):28–31. doi: 10.1136/jmg.26.1.28. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Seizinger B. R., Rouleau G. A., Ozelius L. J., Lane A. H., Farmer G. E., Lamiell J. M., Haines J., Yuen J. W., Collins D., Majoor-Krakauer D. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature. 1988 Mar 17;332(6161):268–269. doi: 10.1038/332268a0. [DOI] [PubMed] [Google Scholar]
  22. Shokeir M. H. Von Hippel-Lindau syndrome: a report on three kindreds. J Med Genet. 1970 Jun;7(2):155–157. doi: 10.1136/jmg.7.2.155. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES