Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

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Authors

BLAHAKOVA I. MAKATUROVA E. KOTRBOVA L. SOUKUPOVA M. LASTUVKOVA J. KOZÁK Libor

Year of publication 2007
Type Article in Periodical
Magazine / Source Journal of Inherited Metabolic Disease
MU Faculty or unit

Faculty of Science

Citation
Field Genetics and molecular biology
Keywords DHCR7; molecular analysis; prenatal screening; Smith-Lemli-Opitz syndrome; unconjugated estriol
Description Pregnant women are offered a biochemical screening test for Down syndrome in the second trimester, where the suspicion for SLOS could be registered, when the unconjugated estriol (uE3) level appears low. A group of 456 fetuses with a high risk for SLOS were examined by DNA analysis. We confirmed SLOS in 5 fetuses and 11 fetuses were carriers.Both of them had nonsense mutation on one allele. It stands to reason that some modifying factors may play a role in the reduction of the uE3 level in the mother's serum.
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