Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex / 中华医学遗传学杂志

ABSTRACT

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.