title: [Mutation screening and prenatal diagnosis of tuberous sclerosis complex].
abstract: OBJECTIVE
  To screen mutations of tuberous sclerosis complex (TSC) patients to confirm a clinical diagnosis of TSC, and to perform prenatal diagnosis for families with mutations.
  
  
  METHODS
  In this study, PCR-denaturing high-performance liquid chromatography(DHPLC), supplemented with sequencing when necessary, was used to screen TSC1 and TSC2 mutations in 21 patients from 19 pedigrees visited author's hospital in the last five years. For novel mutations, one hundred unrelated healthy individuals were screened to exclude the possibility of polymorphism.
  
  
  RESULTS
  Seventeen different mutations were found in 21 patients of 19 pedigrees with 13 being novel mutations, including c. 2672delA, c. 2672insA of TSC1 gene and c.4918insCGCC, c.1143delG, Intron27+1 G>A, c.1957-1958delAG, Intron5+1 G>A, c.910insCT, c.2753 C>G, c.4078dupAGCAAGTCCAGCTCCTC, Intron 11 -1 G>A, Intron 14+1 G>A, c.684 C>A of TSC2 gene, indicating a high frequency of de novo mutations in TSC. Three of these mutations were in the TSC1 gene (N762S, c.2672insA and c. 2672delA), while all remaining 14 were in the TSC2 gene. Prenatal diagnosis for TSC was performed for 7 fetuses from these pedigrees. The six fetuses that tested negative for TSC mutations were carried to term and, to date, none of these children has shown symptoms of TSC.
  
  
  CONCLUSIONS
  Author's data showed that a mutation detection rate of tuberous sclerosis was 89.5%(17/19) among patients in author's hospital. The ratio of TSC2 and TSC1 mutations was about 1:1 in the familial cases, but TSC2 mutation was more common than TSC1 mutation in sporadic cases. Author's data demonstrated that birth of TSC children for those with familial history of TSC could be prevented through prenatal diagnosis.
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, P. R. China.
authors.forename: Wen
authors.initials: W
authors.lastname: Li
authors.forename: Li-hua
authors.initials: LH
authors.lastname: Zhou
authors.forename: Bo-di
authors.initials: BD
authors.lastname: Gao
authors.forename: Lu-yun
authors.initials: LY
authors.lastname: Li
authors.forename: Chang-gao
authors.initials: CG
authors.lastname: Zhong
authors.forename: Fei
authors.initials: F
authors.lastname: Gong
authors.forename: Hong-mei
authors.initials: HM
authors.lastname: Xiao
authors.forename: Tao
authors.initials: T
authors.lastname: Song
authors.forename: Guang-xiu
authors.initials: GX
authors.lastname: Lu
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics*