Tuberous sclerosis complex (TSC): genetics and pathology

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Tuberous sclerosis complex (TSC): genetics and pathology. The TSC genes are growth suppressor genes. Fully referenced neurology checklist.

Genetics features

  • The TSC genes are growth suppressor genes
  • The TSC 1 gene is on chromosome 9: its product is harmatin
  • The TSC 2 gene is on chromosome 16: its product is tuberin
  • TSC2 gene mutations are associated with a worse phenotype
  • The transmission of the mutations is autosomal dominant
  • There is no family history in 66% of cases: these are de novo mutations

Pathology of lesions

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Acronym

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References

  1. Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci 2008; 10:47-62.
  2. Curatolo P, Verdecchia M, Bombardieri R. Tuberous sclerosis complex: a review of neurological aspects. Eur J Paed Neurol 2002; 6:15-23.
  3. Roach ES, Gomez MR, Northup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13:624-628.
  4. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol 2015; 14:733-745.

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