title: [Gene diagnosis for a child with tuberous sclerosis].
abstract: OBJECTIVE
  To identify the pathogenic mutation in a family affected with tuberous sclerosis.
  
  
  METHODS
  For the proband and its parents, mutational hotspots in the 11 exons of TSC1 and TSC2 gene were analyzed with DNA sequencing and bioinformatics tools.
  
  
  RESULTS
  A heterozygous c.4493G>C missense mutation was identified in the proband. The same mutation was however not found in the parents.
  
  
  CONCLUSIONS
  The missense mutation c.4493G>C probably underlie the tuberous sclerosis complex seen in the child.
authors.affiliation: Medical Genetics Center of Guangdong Women and Children Hospital, Maternal and Children Metabolic Genetic Disease Key Laboratory of Guangdong Women and Children Hospital, Guangzhou, Guangdong 511442, P. R. China. zxz53@126.com.
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.forename: Hongke
authors.initials: H
authors.lastname: Ding
authors.forename: Aihua
authors.initials: A
authors.lastname: Yin
authors.forename: Xiaozhuang
authors.initials: X
authors.lastname: Zhang
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C000624650:TSC1 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D025521:Tumor Suppressor Proteins