[P2-160] Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex
To investigate clinical phenotypes and genetic mutations in Chinese children diagnosed with tuberous sclerosis complex (TSC), sequencing TSC1 and 2 genes of 117 children with TSC and their parents was performed. Analysis of the association of mutations in TSC gene with clinical manifestations was presented. All the gene mutations were heterozygous, including 16 patients with mutations in TSC1 gene and 101 patients with mutations in TSC2 gene. Among 16 patients with TSC1 gene mutations, 15 different types of mutations were found, including 5 novel mutations; all patients had skin manifestations and epilepsy. Among 101 patients with TSC2 mutations, 85 different types of mutations were found, including 25 novel mutations; 97 cases had skin manifestations; 97 cases had epilepsy; 74 cases had intellectual disability and 25 cases were autistic. We found same TSC gene mutations in the father or the mother of the 14 children with familial TSC, in whom clinical manifestations were more severe than that in their parents.