Publication details
Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Periodical |
| Magazine / Source | Journal of Inherited Metabolic Disease |
| MU Faculty or unit | |
| 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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