Clinical characteristics and molecular genetic analysis of 73 cases of tuberous sclerosis complex caused by TSC1/2 gene mutations in children

Objective: This study analyzed the clinical and genetic characteristics of 73 pediatric patients with tuberous sclerosis complex (TSC). Through an examination of genotype-phenotype correlations, the research aimed to identify patterns in mutation characteristics to facilitate the optimization of diagnostic, therapeutic, and prognostic strategies. Methods: This retrospective study analyzed pediatric patients with TSC at Nanjing Medical University Children's Hospital between February 2018 and June 2025. Clinical data, including demographics and initial manifestations, were reviewed and peripheral blood samples were collected for whole-exome sequencing. Statistical analysis of categorical variables was performed using the chi-square test. Results: and inherited origins identified. Conclusion: genetic testing is therefore crucial for diagnostic confirmation and enables personalized management strategies in cases of suspected TSC.