Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex

Area of Science:

• Genetics
• Neuroscience
• Dermatology

Background:

• Tuberous Sclerosis Complex (TSC) is a genetic disorder affecting multiple organ systems.
• It follows an autosomal dominant inheritance pattern.
• Accurate diagnosis and understanding genotype-phenotype correlations are crucial for patient management.

Purpose of the Study:

• To investigate the spectrum of TSC1 and TSC2 pathogenic variants in a Chinese cohort.
• To correlate specific genetic mutations with clinical manifestations and demographic factors.
• To identify novel variants and understand the genetic basis of TSC in this population.

Main Methods:

• Mutation analysis was performed on 123 Chinese patients diagnosed with TSC.
• Pathogenic and likely-pathogenic variants in TSC1 and TSC2 genes were identified.
• Statistical analysis was used to correlate genotypes with clinical phenotypes, including demographics and disease manifestations.

Main Results:

• Pathogenic/likely-pathogenic variants were found in 72.2% of index patients, with TSC2 variants (64.3%) more frequent than TSC1 variants (35.7%).
• Significant phenotypic differences were observed, including increased subependymal nodules in males and renal angiomyolipoma in females and sporadic cases.
• Patients with TSC2 variants showed a higher incidence of mental retardation, cardiac rhabdomyoma, and renal angiomyolipoma compared to those with TSC1 variants.

Conclusions:

• Genetic variants in TSC1 and TSC2 are common in Chinese TSC patients, with TSC2 mutations being predominant.
• Specific genotypes correlate with distinct clinical phenotypes, aiding in predicting disease course and management.
• This study contributes to understanding the genetic landscape and phenotypic diversity of TSC in the Chinese population.