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. Conclusion 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.