Publication details

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

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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