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Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene
Author(s) -
Milunsky Aubrey,
Shim Sung Han,
Ito Masamichi,
Jaekle Ronald K.,
Bassett Lori L.,
Brumund Michael R.,
Milunsky Jeff M.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1197
Subject(s) - tuberous sclerosis , tsc2 , tsc1 , prenatal diagnosis , exon , fetus , gene , biology , mutation , genetics , medicine , pathology , pregnancy , apoptosis , pi3k/akt/mtor pathway
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. Conclusion For the first time, mutation analysis of a TSC gene enabled a precise prenatal diagnosis. Copyright © 2005 John Wiley & Sons, Ltd.