{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T11:06:21Z","timestamp":1772881581886,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,11,12]],"date-time":"2007-11-12T00:00:00Z","timestamp":1194825600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Smith\u2013Lemli\u2013Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder. SLOS is caused by the mutations in the gene for 3\u03b2\u2010hydroxysterol \u0394<jats:sup>7<\/jats:sup> reductase (DHCR7; EC 1.3.1.21), which maps to chromosome 11q12\u201013. DHCR7 catalyses the final step in cholesterol biosynthesis\u2014the reduction of 7\u2010dehydrocholesterol to cholesterol. Clinical severity ranges from mild dysmorphism to severe congenital malformation and intrauterine lethality. 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. One novel mutation (p.G30A) was detected. The most frequently found mutations, c.964\u20101&gt;\u2009C and p.W151X, are also the most severe ones. At least one of these mutations was detected in each fetus with SLOS. This suggests that the biochemical screening of pregnant women probably uncovers mainly more severely affected fetuses. We confirmed SLOS also in two patients whose prenatal screening was negative. 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.<\/jats:p>","DOI":"10.1007\/s10545-007-0710-z","type":"journal-article","created":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T10:02:59Z","timestamp":1194602579000},"page":"964-969","source":"Crossref","is-referenced-by-count":3,"title":["Molecular screening of Smith\u2013Lemli\u2013Opitz syndrome in pregnant women from the Czech Republic"],"prefix":"10.1002","volume":"30","author":[{"given":"I.","family":"Blahakova","sequence":"first","affiliation":[{"name":"Center of Molecular Biology and Gene Therapy University Hospital Brno Brno Czech Republic"},{"name":"Centrum molekul\u00e1rn\u00ed biologie a genov\u00e9 terapie Fakultn\u00ed nemocnice Brno \u010cernopoln\u00ed 9 Brno 625 00 Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Makaturova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital Brno Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Kotrbova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital Brno Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Soukupova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Masaryk Hospital \u00dast\u00ed nad Labem Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Lastuvkova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Masaryk Hospital \u00dast\u00ed nad Labem Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Kozak","sequence":"additional","affiliation":[{"name":"Center of Molecular Biology and Gene Therapy University Hospital Brno Brno Czech 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