title: Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.
abstract: BACKGROUND
  The presumptive prenatal diagnosis of tuberous sclerosis (TSC) previously depended upon fetal imaging. Cloning of the two TSC genes (TSC1 and TSC2) now enables precise molecular diagnosis by gene sequencing. We used this approach for the prenatal diagnosis of a fetus showing multiple intracardiac tumors.
  
  
  METHODS
  DNA extracted from cultivated amniotic fluid cells underwent sequencing of all coding regions and exon-intron boundaries of the TSC1 and TSC2 genes.
  
  
  RESULTS
  A mutation (R611Q) was found in exon 16 of the TSC2 gene. Thus far, neither clinically unaffected parents has provided blood samples for mutation analysis.
  
  
  CONCLUSIONS
  For the first time, mutation analysis of a TSC gene enabled a precise prenatal diagnosis.
authors: Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA. amilunsk@bu.edu
authors: Aubrey
authors: A
authors: Milunsky
authors: Sung Han
authors: SH
authors: Shim
authors: Masamichi
authors: M
authors: Ito
authors: Ronald K
authors: RK
authors: Jaekle
authors: Lori L
authors: LL
authors: Bassett
authors: Michael R
authors: MR
authors: Brumund
authors: Jeff M
authors: JM
authors: Milunsky
mesh_terms: D000328:Adult; D000649:Amniocentesis; D003937:Diagnosis, Differential; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D014463:Ultrasonography
chemical_list: C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins