[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.


RESULTS
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.


CONCLUSIONS
These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.
Yuan
Cheng-Da
CD
Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Diseases, Ministry of Education and Anhui Province, Hefei 230032, China.
Chang
Xiao-Li
XL
Wu
Yao-Qun
YQ
Liu
Qin
Q
Gao
Min
M
Xiao
Feng-Li
FL
Zhou
Fu-Sheng
FS
Yang
Sen
S
Liu
Jian-Jun
JJ
Zhang
Xue-Jun
XJ
D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins