Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.

Autor: Milunsky A; Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA. amilunsk@bu.edu, Shim SH, Ito M, Jaekle RK, Bassett LL, Brumund MR, Milunsky JM
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2005 Jul; Vol. 25 (7), pp. 582-5.
DOI: 10.1002/pd.1197
Abstrakt: 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.
Conclusion: For the first time, mutation analysis of a TSC gene enabled a precise prenatal diagnosis.
(Copyright (c) 2005 John Wiley & Sons, Ltd.)
Databáze: MEDLINE
Externí odkaz: