Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations


Işık E., Onay H., Atik T. , Ece Solmaz A. , Terek D. , Gökben S. , ...More

ERCIYES MEDICAL JOURNAL, vol.43, no.1, pp.54-60, 2021 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 43 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.14744/etd.2020.49765
  • Title of Journal : ERCIYES MEDICAL JOURNAL
  • Page Numbers: pp.54-60
  • Keywords: Tuberous sclerosis complex, TSC1, TSC2, mTOR inhibitor, TSC2, VARIANTS, DISEASE, UPDATE

Abstract

Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome. TSC arises from mutations in either TSC1, at 9q34, or TSC2, at 16p13.3. Skin lesions, such as hypomelanotic macules, facial angiofibromas, shagreen patches, and ungual fibromas, are frequently seen in these patients. The present study aims to investigate clinical manifestations, molecular findings and phenotype-genotype correlations in 17 patients with TSC.