# Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes

## TL;DR

This study identifies new genetic variants in TSC1 and TSC2 genes in Chinese patients with tuberous sclerosis complex and confirms their clinical diagnosis.

## Contribution

The study reports 12 novel TSC1 and TSC2 gene variants not previously documented in databases.

## Key findings

- Twelve patients had previously unreported TSC1 or TSC2 gene variants.
- All patients with novel variants showed typical TSC phenotypes like brain lesions and skin changes.
- Variants included 8 frameshift, 2 nonsense, and 2 missense mutations across TSC1 and TSC2 genes.

## Abstract

Background: This study aimed to assess the pathogenicity of newly identified tuberous sclerosis Complex 1 (TSC1) and TSC2 variants, contributing definitive evidence for the diagnosis of TSC.

Methods: A total of 103 TSC patients underwent TSC genetic testing using standardized protocols, and genetic testing was extended to their respective families. Analysis of genetic testing results considered clinical phenotype and gene pathogenicity based on the 2012 revision of the International Society of TSC.

Results: Among participants, 12 exhibited previously unreported variants of TSC1 or TSC2 gene absent in relevant databases. All 12 clinically diagnosed TSC patients presented typical phenotypes, such as brain lesions and skin changes. Notably, there were 2 variants of TSC1 gene and 10 variants of TSC2 gene, encompassing 8 frameshift variants, 2 nonsense variants, and 2 missense variants.

Conclusions: This study broadens the spectrum of variants of TSC1 and TSC2 genes, reaffirming the clinical diagnosis of patients through genetic testing.