Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.
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.
Milunsky
Aubrey
A
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA. amilunsk@bu.edu
Shim
Sung Han
SH
Ito
Masamichi
M
Jaekle
Ronald K
RK
Bassett
Lori L
LL
Brumund
Michael R
MR
Milunsky
Jeff M
JM
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
C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins