[Analysis of gene mutations in two patients with tuberous sclerosis complex].

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.