Role of mutational analysis in diagnosis of tuberous sclerosis complex

Clin Genet. 2009 Mar;75(3):282-5. doi: 10.1111/j.1399-0004.2008.01129.x.

Abstract

We describe three cases in whom identification of a disease-causing mutation in the TSC1 or TSC2 gene preceded the appearance or detection of symptoms sufficient for a clinical diagnosis of tuberous sclerosis complex (TSC). We suggest that genetic testing be given a more prominent role in the evaluation of individuals with a family history of TSC or symptoms suggestive of TSC and propose that diagnostic criteria be revised to include genetic testing.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Child
  • Child, Preschool
  • DNA Mutational Analysis*
  • Female
  • Humans
  • Male
  • Retrospective Studies
  • Tuberous Sclerosis / diagnosis*
  • Tuberous Sclerosis / pathology
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics

Substances

  • TSC1 protein, human
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins