Objective: To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC).
Methods: All the coding exons of TSC1 and TSC2 genes of these two patients, unaffected member in the two families, and 100 unrelated population-matched controls were amplified by polymerase chain reaction. The products were analyzed by direct sequencing.
Result: Two TSC2 gene mutations (c. 268C > T, c. 5 227C > T) were identified in two patients, but not in their family members and in 100 unrelated population-matched controls.
Conclusion: These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.