title: [Analysis of gene mutations in two patients with tuberous sclerosis complex].
abstract: 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.
authors.affiliation: 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.
authors.forename: Cheng-Da
authors.initials: CD
authors.lastname: Yuan
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Chang
authors.forename: Yao-Qun
authors.initials: YQ
authors.lastname: Wu
authors.forename: Qin
authors.initials: Q
authors.lastname: Liu
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Feng-Li
authors.initials: FL
authors.lastname: Xiao
authors.forename: Fu-Sheng
authors.initials: FS
authors.lastname: Zhou
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Jian-Jun
authors.initials: JJ
authors.lastname: Liu
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: 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*
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins