Abstract: Objective: To determine the gene mutations of three patients with tuberous sclerosis. Methods: The whole exome gene test was conducted on the 3 patients' blood samples and the generation sequencing verification of case 3 was conducted. Results: Case 1 had a heterozygous insertion variation on TSC1 gene (TSC1: NM_000368.5:exon10:c.989dupT:p.S331Efs*10). The other cases had heterozygous mutations of TSC2: NM_000548.5:exon22:c.2481_2486 del:p.V828_K829 del and TSC2: NM_000548.5:exon5:c.348delG:p.V118Sfs*64. Genetic testing of the parents of case 3 were normal. Conclusion: The gene mutations of TSC2 were new. We speculate that the gene variants of case 3 was spontaneous or his parent have germ cell mosaic. Our study enriched the mutation spectrum of TSC.

Key words: tuberous sclerosis complex, gene mutation, TSC1, TSC2, genetic diagnosis