Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex.

ABSTRACT:

Background

Tuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%-90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants. Despite using various techniques, some patients still have "no mutation identified" (NMI).

Methods

We hypothesized that the causal variants of patients with NMI may be structural variants or deep intronic variants. To investigate this, we sequenced the DNA of 26 tuberous sclerosis patients with NMI using targeted long-read sequencing.

Results

We identified likely pathogenic/pathogenic variants in 13 of the cases, of which 6 were large deletions, four were InDels, two were deep intronic variants, one had retrotransposon insertion i

SUBMITTER: Duan J 

PROVIDER: S-EPMC11321964 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature