Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.

ABSTRACT:

Purpose

To explore the relationship between the genotype and renal phenotype in a Chinese cohort and guide clinical decision-making for treating tuberous sclerosis complex (TSC).

Materials and methods

We reviewed 173 patients with definite TSC at three centers in China from September 2014 to September 2020. All the patients underwent TSC1 and TSC2 genetic testing as well as renal phenotypic evaluation. All analyses were performed using the SPSS software, version 19.0, with a cut-off P value of 0.05 considered statistically significant.

Results

We identified variants in 93% (161/173) cases, including 16% TSC1 and 77% TSC2 variants. Analysis of the relationship between the genotype and renal phenotype, revealed that those with TSC2 variants were more likely to develop s

SUBMITTER: Luo C 

PROVIDER: S-EPMC9308181 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature