Chapter 4. Genetics of Tuberous Sclerosis Complex

  1. Dr. David J. Kwiatkowski1,
  2. Dr. Vicky Holets Whittemore2 and
  3. Dr. Elizabeth A. Thiele3
  1. Dr. David J. Kwiatkowski

Published Online: 9 JUN 2010

DOI: 10.1002/9783527630073.ch4

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics

How to Cite

Kwiatkowski, D. J. (2010) Genetics of Tuberous Sclerosis Complex, in Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics (eds D. J. Kwiatkowski, V. H. Whittemore and E. A. Thiele), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527630073.ch4

Editor Information

  1. 1

    Brigham & Women's Hospital, Dana Farber Cancer Institute, Harvard Medical School, 1 Blackfan Circle, Boston, MA 02115, USA

  2. 2

    Tuberous Sclerosis Alliance, 801 Roeder Road, Silver Spring, MD 20910, USA

  3. 3

    Carol & James Herscot Center For TCS, Massachusetts General Hospital, Department of Neurology, 175 Cambridge Street, Boston, MA 02114, USA

Author Information

  1. Brigham & Women's Hospital, Dana Farber Cancer Institute, Harvard Medical School, 1 Blackfan Circle, Boston, MA 02115, USA

Publication History

  1. Published Online: 9 JUN 2010
  2. Published Print: 21 APR 2010

ISBN Information

Print ISBN: 9783527322015

Online ISBN: 9783527630073

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Keywords:

  • chromosome;
  • exon;
  • hamartoma;
  • mosaicism;
  • mutation;
  • polymorphisms;
  • TSC1;
  • TSC2

Summary

This chapter contains sections titled:

  • Introduction

  • Historical Review of Linkage Analysis and Positional Cloning of the TSC1 and TSC2 Genes

  • The TSC1 and TSC2 Genes: Genomic Structure, Splicing, Predicted Sequences, and Domains

  • Mutational Spectrum of TSC1 and TSC2

  • Frequency and Significance of Mosaicism in TSC

  • Considerations in Patients in Whom No Mutation Can Be Identified

  • The Role of TSC1 and TSC2 in Tumor Development

  • The Future of Molecular Diagnostics in TSC

  • References