Identify the origin of de novo variants in TSC patients by ddPCR.

ABSTRACT:

Background

Tuberous sclerosis complex (TSC), an inherited neurocutaneous disorder, is caused by variants in the TSC1 or TSC2 genes. The mosaic variants of TSC1 and TSC2 are scarcely detectable using the conventional next-generation sequencing (NGS). Therefore, this study aims to explore the detection and distribution of mosaic variants within affected families.

Methods

Through whole-exome sequencing (WES) or the TSC1/TSC2 panel to detect the variants of the TSC1 and TSC2 genes, the reaction system of droplet digital PCR (ddPCR) was designed to detect the mosaicism of these variants in affected families.

Results

Genetic testing was carried out on 29 TSC patients via WES or the TSC1/TSC2 panel. The results showed that 27 patients had positive results in the TSC gene var

SUBMITTER: Ni K 

PROVIDER: S-EPMC12315287 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature