Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex

Objective: To explore the genetic basis for Chinese pedigree affected with tuberous sclerosis complex (TSC).

Methods: The proband and his family members were subjected to Sanger sequencing for variants of the TSC1 and TSC2 genes.

Results: The proband was found to harbor a c.2837+1dupG splicing variant at a donor site of the TSC2 gene. The same variant was not found among his family members and the fetus during his mother's subsequent pregnancy.

Conclusions: The c.2837+1dupG splicing variant of the TSC2 gene has probably predisposed to the TSC in this pedigree. Above finding has enriched the spectrum of pathogenic variants associated with this disease.