Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis

J Child Neurol. 2015 Apr;30(5):610-4. doi: 10.1177/0883073814531332. Epub 2014 Apr 30.

Abstract

Tuberous sclerosis complex is an autosomal dominant disorder characterized by hamartomas in multiple organ systems. Mutations in the 2 large genes TSC1 and TSC2 have been demonstrated to be associated with tuberous sclerosis complex by various mutation screening methods. Targeted next-generation sequencing for genetic analysis is performed in the current study and is proved to be less cost, labor, and time consuming compared with Sanger sequencing. Two de novo and 1 recurrent TSC2 mutation in patients with tuberous sclerosis complex were revealed. Clinical details of patients were described and the underlying mechanism of the 2 novel TSC2 mutations, c.245G>A(p.W82X) and c.5405_5408dupACTT(p.P1803Lfs*25), were discussed. These results added to variability of TSC mutation spectrum and suggest that targeted next-generation sequencing could be the primary choice over Sanger sequencing in future tuberous sclerosis complex genetic counseling.

Keywords: Sanger sequencing; messenger RNA decay; mutation; next-generation sequencing; tuberous sclerosis complex.

Publication types

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

MeSH terms

  • Child
  • Child, Preschool
  • DNA Mutational Analysis / methods*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Male
  • Mutation
  • RNA, Messenger
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics

Substances

  • RNA, Messenger
  • TSC2 protein, human
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins