title: [Analysis of TSC gene mutations in five patients with tuberous sclerosis complex].
abstract: OBJECTIVE
  To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC).
  
  
  METHODS
  For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing.
  
  
  RESULTS
  For one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic patient, a repeat substitution with deletion mutation c.5238-5255delCATCAAGCGGCTCCGCCA (p.His1746GlnfsX56) was detected in the exon 40 of the TSC2 gene, which led to a stop codon TGA after the 56th amino acids. No mutation was found in another family.
  
  
  CONCLUSIONS
  The missense mutation c.1964C>T(P.S655F) and the substitution with deletion mutation 5238-5255delCATCAAGCGGCTCCGCCA(p.His1746GlnfsX56) of the TSC2 gene probably underlie the disease in the first family and the sporadic case.
authors.affiliation: Department of Dermatology, the Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, China. laowaiaeo@163.com.
authors.forename: Linli
authors.initials: L
authors.lastname: Liu
authors.forename: Zhengzhong
authors.initials: Z
authors.lastname: Zhang
authors.forename: Yunzhu
authors.initials: Y
authors.lastname: Mu
authors.forename: Fen
authors.initials: F
authors.lastname: Xiong
authors.forename: Hao
authors.initials: H
authors.lastname: Yang
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.forename: Yiping
authors.initials: Y
authors.lastname: Liu
authors.forename: Xing
authors.initials: X
authors.lastname: Chen
authors.forename: Weichi
authors.initials: W
authors.lastname: Sui
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; 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