Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder 
characterized by hamartomas in multiple organs and is caused by a wide spectrum 
of mutations in 1 of 2 causative genes (TSC1 or TSC2). Here, we present 
mutational analyses of the TSC1 and TSC2 genes in 4 cases of TSC in Chinese Han 
children, including 2 familial and 2 sporadic cases, using PCR and DNA 
sequencing of the entire coding region as well as exon-intron boundaries of 
these genes. Three mutations were identified in the TSC2 gene. Of these 
mutations, 2 mutations (c.3312-3313delGA and c.45delT) were novel, and the 3rd 
mutation (c.5238-5255del) was previously reported in Chinese Han and other 
populations. These mutations were not present in healthy family members or in 
100 unrelated normal controls. The identification of these mutations in this 
study further expands the spectrum of known TSC2 gene mutations and contributes 
to prenatal molecular diagnosis and preimplantation genetic testing of TSC.