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Human Genetics

, Volume 107, Issue 2, pp 97–114 | Cite as

Molecular genetic advances in tuberous sclerosis

  • Jeremy P. Cheadle
  • Mary Pat Reeve
  • Julian R. Sampson
  • David J. Kwiatkowski
Review Article

Abstract.

Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.

Keywords

Tuberous Sclerosis Tuberous Sclerosis Complex Tuberin TSC2 Gene Tuberous Sclerosis Complex Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Jeremy P. Cheadle
    • 1
  • Mary Pat Reeve
    • 2
  • Julian R. Sampson
    • 1
  • David J. Kwiatkowski
    • 2
  1. 1.Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UKUK
  2. 2.Genetics Laboratory, Hematology Division, Brigham and Women's Hospital, Boston, MA 02115, USAUSA

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