Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 and TSC2. Conventional DNA diagnostic screens identify a TSC1 or TSC2 mutation in 75 - 90% of individuals categorised with definite TSC. The remaining individuals either have a mutation that is undetectable using conventional methods, or possibly a mutation in another as yet unidentified gene.

Methods

Here we apply a targeted Next Generation Sequencing (NGS) approach to screen the complete TSC1 and TSC2 genomic loci in 7 individuals fulfilling the clinical diagnostic criteria for definite TSC in whom no TSC1 or TSC2 mutations were identified using conventional screening methods.

Results

We identified and confirmed pathogenic mutations in 3 individuals. In the rema

SUBMITTER: Nellist M 

PROVIDER: S-EPMC4422413 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature