title: [Analysis of TSC gene mutation in a patient with tuberous sclerosis].
abstract: OBJECTIVE
  To identify pathogenic mutation of the TSC1 and TSC2 genes in a patient with tuberous sclerosis.
  
  
  METHODS
  Peripheral venous blood samples and clinical data of a pregnant woman with tuberous sclerosis and 4 family members (parents, uncle and husband) were collected. Genomic DNA was extracted. All coding exons of the TSC1 and TSC2 genes and their flanking intronic sequences were amplified by polymerase chain reaction and subjected to direct sequencing.
  
  
  RESULTS
  The patient has presented facial angiofibroma and prefrons fibrous plaque for 20 years, and lumbar connective tissue nevus for 10 years. She also had mental retardation but no epilepsy. A novel frame-shift mutation c.4258-4261delTCAG was detected in exon 34 of the TSC2 gene, which had led to a premature stop codon TAG after the 55th amino acids. The same mutation was not found in the unaffected family members and 100 unrelated healthy controls.
  
  
  CONCLUSIONS
  The novel frame-shifting mutation c.4258-4261delTCAG (p.Ser1420GlyfsX55) in the TSC2 gene may be responsible for the disease in the patient.
authors.affiliation: Department of Dermatology, The Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan 637000, P. R. China. yongmei_lv830@163.com.
authors.forename: Zhengzhong
authors.initials: Z
authors.lastname: Zhang
authors.forename: Yongmei
authors.initials: Y
authors.lastname: Lyu
authors.forename: Yunzhu
authors.initials: Y
authors.lastname: Mu
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: Linli
authors.initials: L
authors.lastname: Liu
authors.forename: Xing
authors.initials: X
authors.lastname: Chen
authors.forename: Weichi
authors.initials: W
authors.lastname: Sui
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins