title: [Prenatal diagnostics of tuberous sclerosis based on causal mutation knowledge].
abstract: BACKGROUND
  Tuberous sclerosis is an autosomal-dominant disease characterised by development of benign growth - hamartomas in different organs. Disorder is caused by mutations affecting either of the tumor-suppressor genes, TSC1 or TSC2. Quest for causing mutations is very difficult due to their random distribution over the genes.
  
  
  RESULTS
  Article refers on accomplishment of the first tuberous sclerosis prenatal diagnostics in Czech Republic based on knowledge of causing mutation. Foetal DNA sample, obtained in 13th week from Q435X family pregnant woman, was analyzed by DGGE method.
  
  
  CONCLUSIONS
  Examination excluded presence of tested TSC1 gene defect in an offspring.
authors.affiliation: Ustav lékarské genetiky a fetální medicíny FN a UP, Olomouc. vrtel@fnol.cz
authors.forename: R
authors.initials: R
authors.lastname: Vrtel
authors.forename: R
authors.initials: R
authors.lastname: Vodicka
authors.forename: A
authors.initials: A
authors.lastname: Santavá
authors.forename: J
authors.initials: J
authors.lastname: Santavý
authors.forename: E
authors.initials: E
authors.lastname: Krejciríková
mesh_terms: D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014402:Tuberous Sclerosis / Q000175:diagnosis*; 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